RGD:155929845 Rat Genome Database

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Variant: RGD:155929845 -  Homo sapiens

RGD ID: 155929845
ClinVar ID: CV2224624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTMA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 232,576,104
GRCh38 2 231,711,394
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002823.5:c.92G>C
NC_000002.12:g.231711394G>C
NC_000002.11:g.232576104G>C
NM_001099285.1:c.92G>C
More... 		07/06/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTMA
Accession:NM_002823
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDAAVDTSSEITTKDLKEKKEVVEEAENGTDAPANGNANEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEEDGDEDE
EAESATGKRAAEDDEDDDVDTKKQKTDEDD*

Gene Symbol:PTMA
Accession:NM_001099285
Location:EXON
Amino Acid Prediction: R to T (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDAAVDTSSEITTKDLKEKKEVVEEAENGTDAPANGNAENEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEEDGDED
EEAESATGKRAAEDDEDDDVDTKKQKTDEDD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004098190 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTMA CLINVAR
OMIM 188390 CLINVAR