RGD:11547472 Rat Genome Database

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Variant: RGD:11547472 -  Homo sapiens

RGD ID: 11547472
RS ID: rs886038723
ClinVar ID: CV253578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 75,387,317
GRCh38 9 72,772,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138691.2:c.742-12G>A
NG_008213.1:g.255601G>A
NC_000009.12:g.72772401G>A
NC_000009.11:g.75387317G>A
More...
intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMC1
Accession:NM_138691
Location:INTRON

Gene Symbol:TMC1
Accession:XM_017014256
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247801 CLINVAR
dbSNP (RS) rs886038723 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMC1 CLINVAR
OMIM 606706 CLINVAR