View genomic variant #0000000197

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43615632C>G
Published as -
GERP 5.580
Segregation -
DB-ID RET_000005 See all 2 reported entries
MSCV MSCV_0000197
dbSNP ID rs267607011
Frequency -
Sources ; clinvar;
Reference 11788682;17895320
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 0000000197 +/+ c.2711C>G p.(Ser904Cys) missense_variant - 15/19 probably_damaging(0.999) r.(?) deleterious(0.01)
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ClinVar @ MSeqDR

RCVaccession RCV000021877; RCV000014972;
Chromosome 10:43615632..43615632
ClinVar Allele ID 36303
Disease database name and identifier MedGen:CN076151
ClinVar preferred disease name MEN2 phenotype: Unknown
HGVS variant names NC 000010.10:g.43615632C>G
ClinVar review status no assertion criteria provided
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:164761.0043
Gene symbol:Gene id. RET:5979
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 267607011
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN MeSH:D018814, MedGen:C0025269, OMIM:162300, Orphanet:ORPHA247709, SNOMED CT:6153000, SNOMED CT:61530001
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB Multiple endocrine neoplasia, type 2b
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. 13945:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000021878;
Chromosome 10:43615632..43615632
ClinVar Allele ID 36304
Disease database name and identifier MedGen:CN076152
ClinVar preferred disease name MEN2 phenotype: Unclassified
HGVS variant names NC 000010.10:g.43615632C>T
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 267607011
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
CM020379104361563243615632HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM076454104361563243615632HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
rs267607011104361563243615632C/G/Tclinically associatedMultiple endocrine neoplasia, type 2b
rs267607011104361563243615632C/G/Tclinically associatedMEN2 phenotype: Unknown
rs267607011104361563243615632C/G/Tclinically associatedMEN2 phenotype: Unclassified