RGD:8570419 Rat Genome Database

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Variant: RGD:8570419 -  Homo sapiens

RGD ID: 8570419
RS ID: rs397515399
ClinVar ID: CV48032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404708  NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 172,659,840
GRCh38 5 173,232,837
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.7476C>A
NC_000005.10:g.173232837G>T
NC_000005.9:g.172659840G>T
NP_004378.1:p.Pro236His
More... 		11/27/2019 3 prime utr variant|missense|missense variant likely pathogenic|uncertain significance ASPLENIA, FAMILIAL; Asplenia, isolated congenital; HYPOSPLENIA, ISOLATED CONGENITAL; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_001166176
Location:3UTRS;EXON

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

Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 236
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAHYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:20846672   PMID:22560297   PMID:23579497  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000032628 CLINVAR
  RCV001577986 CLINVAR
  RCV004018701 CLINVAR
dbSNP (RS) rs397515399 CLINVAR
MedGen C0685889 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 271400 CLINVAR
  600584 CLINVAR
OMIM Allele 600584.0024 CLINVAR