Genomic variant #0000000197

Chromosome 10
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.43615632C>G
Published as -
GERP 5.580
Segregation -
DB-ID RET_000005
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RET NM_020975.4 +/+ c.2711C>G p.(Ser904Cys) missense_variant - 15/19 probably_damaging(0.999) r.(?) deleterious(0.01)


ClinVar @ MSeqDR

36303
MedGen:CN076151
MEN2 phenotype: Unknown
HGVS variant names NC 000010.10:g.43615632C>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:164761.0043
Gene symbol:Gene id. RET:5979
SO:0001583|missense variant
1
dbSNP ID 267607011
MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:ORPHA247709,SNOMED CT:6153000,SNOMED CT:61530001
Multiple endocrine neoplasia, type 2b
13945:Pathogenic
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

36304
MedGen:CN076152
MEN2 phenotype: Unclassified
HGVS variant names NC 000010.10:g.43615632C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. RET:5979
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