RGD:21069173 Rat Genome Database

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Variant: RGD:21069173 -  Homo sapiens

RGD ID: 21069173
ClinVar ID: CV795677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 172,661,770
GRCh38 5 173,234,767
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001159647.1:p.Pro106Leu
NM_001166176.2:c.317C>T
NM_004387.4:c.317C>T
NP_001159648.1:p.Pro106Leu
More... 		06/01/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDLRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDLRAEKKGCELPRGQRPPVLFSSALSQPDFLQMLSETCRWLPVHLAE*

Gene Symbol:NKX2-5
Accession:NM_001166175
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDLRAEKKA*

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDLRAEKKAQLAGAARAERFPRGKVRKCCATAGTREWTR*
Variant Samples