RGD:401763308 Rat Genome Database

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Variant: RGD:401763308 -  Homo sapiens

RGD ID: 401763308
ClinVar ID: CV2703738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDAP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 98,995,542
GRCh38 7 99,397,919
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014891.7:c.430G>A
NG_028040.1:g.15764G>A
NC_000007.14:g.99397919C>T
NC_000007.13:g.98995542C>T
More... 		04/11/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PDAP1
Accession:NM_014891
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKGGRKGGHKGRARQYTSPEEIDAQLQAEKQKAREEEEQKEGGDGAAGDPKKEKKSLDSDESEDEEDDYQQKRKGVEGL
IDIENPNRVAQTTKKVTQLDLDGPKELSRREREEIEKQKAKERYMKMHLAGKTEQAKADLARLTIIRKQREEAARKKEEE
RKAKDDATLSGKRMQSLSLNK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004306619 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PDAP1 CLINVAR
OMIM 607075 CLINVAR