RGD:155690763 Rat Genome Database

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Variant: RGD:155690763 -  Homo sapiens

RGD ID: 155690763
ClinVar ID: CV1789286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404709  NKX2-5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 172,660,196
GRCh38 5 173,233,193
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.7120G>C
NC_000005.10:g.173233193C>G
NC_000005.9:g.172660196C>G
NM_004387.3:c.351G>C
More... 		09/30/2022 3 prime utr variant uncertain significance

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: Q to H (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALHKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

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

Variant Samples
Additional References at PubMed
PMID:29332214  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002459311 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR