RGD:41406406 Rat Genome Database

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Variant: RGD:41406406 -  Homo sapiens

RGD ID: 41406406
RS ID: rs767368123
ClinVar ID: CV982547
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANKH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 14,871,562
GRCh38 5 14,871,453
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1362t1:c.-6G>C
NG_008273.2:g.5333G>C
NM_054027.5:c.-6G>C
NC_000005.10:g.14871453C>G
More... 		07/10/2020 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ANKH
Accession:NM_054027
Location:5UTRS;EXON

Gene Symbol:ANKH
Accession:XM_011514067
Location:5UTRS;EXON

Gene Symbol:ANKH
Accession:XM_017009644
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001288434 CLINVAR
dbSNP (RS) rs767368123 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ANKH CLINVAR
OMIM 605145 CLINVAR