View genomic variant #0000000195

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type delins
DNA change (genomic) (Relative to hg19 / GRCh37) g.43615568_43615569delinsTT
Published as -
GERP -
Segregation -
DB-ID RET_000004
MSCV MSCV_0000195
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RET 00003304 NM_020975.4 0000000195 +/+ c.2647_2648delinsTT p.(Ala883Phe) - - - - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000021872;
Chromosome 10:43615568..43615568
ClinVar Allele ID 36299
Disease database name and identifier MedGen:CN076152
ClinVar preferred disease name MEN2 phenotype: Unclassified
HGVS variant names NC 000010.10:g.43615568G>A
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
dbSNP ID 377767428
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000422001; RCV000426500; RCV000433892; RCV000021873; RCV000445104;
Chromosome 10:43615568..43615569
ClinVar Allele ID 47233
Disease database name and identifier Human Phenotype Ontology:HP:0002865, 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
ClinVar preferred disease name 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
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic/Likely pathogenic
Variant type Indel
Sequence Ontology for variant type SO:1000032
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
Allele origin somatic
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