RGD:156180438 Rat Genome Database

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Variant: RGD:156180438 -  Homo sapiens

RGD ID: 156180438
ClinVar ID: CV2374755
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTMA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 232,577,547
GRCh38 2 231,712,837
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.319G>A
NM_001099285.2:c.322G>A
NC_000002.12:g.231712837G>A
NC_000002.11:g.232577547G>A
More... 		05/11/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTMA
Accession:NM_001099285
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDAAVDTSSEITTKDLKEKKEVVEEAENGRDAPANGNAENEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEEDGDED
EEAESATGKRAAEDDEDDDVDTKKQKTNEDD*

Gene Symbol:PTMA
Accession:NM_002823
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDAAVDTSSEITTKDLKEKKEVVEEAENGRDAPANGNANEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEEDGDEDE
EAESATGKRAAEDDEDDDVDTKKQKTNEDD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004225362 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTMA CLINVAR
OMIM 188390 CLINVAR