RGD:329392267 Rat Genome Database

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Variant: RGD:329392267 -  Homo sapiens

RGD ID: 329392267
ClinVar ID: CV2470535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127276006  PTMA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 232,573,449
GRCh38 2 231,708,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001099285.2:c.33A>C
NM_002823.5:c.33A>C
NG_097854.1:g.267A>C
NC_000002.12:g.231708739A>C
More... 		02/23/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTMA
Accession:NM_002823
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDAAVDTSSDITTKDLKEKKEVVEEAENGRDAPANGNANEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEEDGDEDE
EAESATGKRAAEDDEDDDVDTKKQKTDEDD*

Gene Symbol:PTMA
Accession:NM_001099285
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDAAVDTSSDITTKDLKEKKEVVEEAENGRDAPANGNAENEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEEDGDED
EEAESATGKRAAEDDEDDDVDTKKQKTDEDD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004273547 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTMA CLINVAR
OMIM 188390 CLINVAR