RGD:150551738 Rat Genome Database

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Variant: RGD:150551738 -  Homo sapiens

RGD ID: 150551738
RS ID: rs1216673146
ClinVar ID: CV1295208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 172,661,864
GRCh38 5 173,234,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_671t1:c.223C>T
NM_001166175.2:c.223C>T
NM_001166176.2:c.223C>T
NM_004387.4:c.223C>T
More... 		11/05/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX2-5
Accession:NM_004387
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGCAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG
IRAW*

Gene Symbol:NKX2-5
Accession:NM_001166176
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGCAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKGCELPRGQRPPVLFSSALSQPDFLQMLSETCRWLPVHLAE*

Gene Symbol:NKX2-5
Accession:NM_001166175
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGCAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKA*

Gene Symbol:NKX2-5
Accession:XM_017009071
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGCAPSPA
KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKAQLAGAARAERFPRGKVRKCCATAGTREWTR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001754501 CLINVAR
dbSNP (RS) rs1216673146 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKX2-5 CLINVAR
OMIM 600584 CLINVAR