RGD:15169986 Rat Genome Database

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Variant: RGD:15169986 -  Homo sapiens

RGD ID: 15169986
RS ID: rs200310768
ClinVar ID: CV731063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 30,098,022
GRCh38 16 30,086,701
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023283.1:g.10184C>T
NC_000016.10:g.30086701G>A
NC_000016.9:g.30098022G>A
NM_004608.4:c.914-6C>T
More... 		11/30/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TBX6
Accession:XM_047434551
Location:INTRON

Gene Symbol:TBX6
Accession:NM_004608
Location:INTRON

Gene Symbol:TBX6
Accession:XM_011545926
Location:INTRON

Gene Symbol:TBX6
Accession:XR_007064904
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000883385 CLINVAR
dbSNP (RS) rs200310768 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TBX6 CLINVAR
OMIM 602427 CLINVAR