RGD:13212011 Rat Genome Database

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Variant: RGD:13212011 -  Homo sapiens

RGD ID: 13212011
RS ID: rs1228923680
ClinVar ID: CV425634
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404709  NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 172,660,501
GRCh38 5 173,233,498
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013340.1:g.6815G>T
NC_000005.10:g.173233498C>A
NC_000005.9:g.172660501C>A
NP_001159647.1:p.Ter113Leu
More... 		06/07/2017 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_001166175
Location:EXON
Amino Acid Prediction: * to L (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKAL

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

Additional Information

Database Acc Id Source(s)
ClinVar RCV000498218 CLINVAR
dbSNP (RS) rs1228923680 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR