RGD:329370852 Rat Genome Database

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Variant: RGD:329370852 -  Homo sapiens

RGD ID: 329370852
ClinVar ID: CV2426705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127404708  NKX2-5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 172,659,616
GRCh38 5 173,232,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_671t1:c.931A>G
NM_001166176.2:c.*730A>G
NM_001166175.2:c.*884A>G
NM_004387.4:c.931A>G
More... 		02/25/2023 3 prime utr variant likely benign

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: S to G (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQGNSGVSTLHG
IRAW*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003172159 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR