View genomic variant #0000000200

Chromosome 10
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43617416T>C
Published as -
GERP 5.430
Segregation -
DB-ID RET_000007
dbSNP ID rs74799832
Frequency -
Sources ; clinvar;
Reference 15531714;18252215;7824936;9620546;23757202;7977365;2660074;3078962;7536460;7911697;{PMID:7906417:79064
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RET NM_020975.4 +/+ c.2753T>C p.(Met918Thr) missense_variant - 16/19 probably_damaging(1) r.(?) deleterious(0)


ClinVar @ MSeqDR

28958
Human Phenotype Ontology:HP:0000212,MedGen:C0017567|Human Phenotype Ontology:HP:0000316,MedGen:CN000296|Human Phenotype Ontology:HP:0000821,MedGen:C0020676|Human Phenotype Ontology:HP:0001382,MedGen:C1844820|Human Phenotype Ontology:HP:0001636,MedGen:CN001489|Human Phenotype Ontology:HP:0002019,MedGen:C0009806|Human Phenotype Ontology:HP:0004322,MedGen:C0349588|Human Phenotype Ontology:HP:0012471,MedGen:C1836543|MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005|MeSH:D013964,MedGen:C0040136|MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:ORPHA652,SNOMED CT:30664006|MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:ORPHA247698,SNOMED CT:61808009|MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001|MedGen:C0031511,OMIM:171300|MedGen:C1833929|MedGen:C1970712,OMIM:610755,Orphanet:ORPHA276152|MedGen:CN073359,Orphanet:ORPHA653,SNOMED CT:61808009|MedGen:CN169374|MedGen:CN517202
Gingival overgrowth|Hypertelorism|Hypothyroidism|Joint hypermobility|Tetralogy of Fallot|Constipation|Short stature|Thick vermilion border|Medullary thyroid carcinoma|Neoplasm of the thyroid gland|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Pheochromocytoma|Thyroid carcinoma, sporadic medullary|Multiple endocrine neoplasia, type 4|Multiple endocrine neoplasia, type 2|not specified|not provided
HGVS variant names NC 000010.10:g.43617416T>C
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
ARUP Laboratories, Molecular Genetics and Genomics:2144,Centre for Mendelian Genomics,University Medical Centre Ljubljana:CMGVARID00477,HGMD:CM941246,OMIM Allelic Variant:164761.0013,UniProtKB (protein):P07949#VAR 006342
Gene symbol:Gene id. RET:5979
SO:0001583|missense variant
3
dbSNP ID 74799832
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs74799832104361741643617416T/COMIM phenotype variantsMULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
rs74799832104361741643617416T/COMIM phenotype variantsMedullary thyroid carcinoma
rs74799832104361741643617416T/COMIM phenotype variantsMultiple neoplasia type 2B
rs74799832104361741643617416T/COMIM phenotype variantsRENAL ADYSPLASIA
rs74799832104361741643617416T/COMIM phenotype variantsMultiple neoplasia 2B
rs74799832104361741643617416T/COMIM phenotype variantsMultiple endocrine neoplasia, type 2b
rs74799832104361741643617416T/COMIM phenotype variantsThyroid carcinoma, sporadic medullary
rs74799832104361741643617416T/COMIM phenotype variantsPheochromocytoma, somatic
CM941246104361741643617416HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available