View genomic variant #0000000195

Chromosome 10
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type delins
DNA change (genomic) (Relative to hg19 / GRCh37) g.43615568_43615569delinsTT
Published as -
GERP -
Segregation -
DB-ID RET_000004
dbSNP ID rs377767429
Frequency -
Sources ; clinvar;
Reference 9294615
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.2647_2648delinsTT p.(Ala883Phe) - - - - r.(?) -


ClinVar @ MSeqDR

36299
MedGen:CN076152
MEN2 phenotype: Unclassified
HGVS variant names NC 000010.10:g.43615568G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. RET:5979
SO:0001583|missense variant
dbSNP ID 377767428
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

47233
MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005|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:C1970712,OMIM:610755,Orphanet:ORPHA276152
Medullary thyroid carcinoma|Multiple endocrine neoplasia, type 1|Multiple endocrine neoplasia, type 2a|Multiple endocrine neoplasia, type 2b|Multiple endocrine neoplasia, type 4
HGVS variant names NC 000010.10:g.43615568 43615569delGCinsTT
no assertion criteria provided
Clinical Significance
Indel
SO:1000032
Gene symbol:Gene id. RET:5979
SO:0001583|missense variant
2
dbSNP ID 377767429
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
CM043336104361556843615568HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CX973311104361556843615568HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available