RGD:126732659 Rat Genome Database

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Variant: RGD:126732659 -  Homo sapiens

RGD ID: 126732659
ClinVar ID: CV1000477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404709  NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 172,660,470
GRCh38 5 173,233,467
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166176.2:c.335-3C>G
LRG_671:g.6846C>G
NG_013340.1:g.6846C>G
NC_000005.10:g.173233467G>C
More... 		10/01/2020 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_001166175
Location:3UTRS;EXON

Gene Symbol:NKX2-5
Accession:NM_004387
Location:INTRON

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:INTRON

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:INTRON

Variant Samples