RGD:156243128 Rat Genome Database

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Variant: RGD:156243128 -  Homo sapiens

RGD ID: 156243128
ClinVar ID: CV2231487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSTPIP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 43,571,884
GRCh38 18 45,991,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024430.4:c.904G>A
NC_000018.10:g.45991918C>T
NC_000018.9:g.43571884C>T
NM_024430.3:c.904G>A
More... 		07/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PSTPIP2
Accession:NM_024430
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRSLFKGNFWSADILSTIGYDNIIQHLNNGRKNCKEFEDFLKERAAIEERYGKDLLNLSRKKPCGQSEINTLKRALEVF
KQQVDNVAQCHIQLAQSLREEARKMEEFREKQKLQRKKTELIMDAIHKQKSLQFKKTMDAKKNYEQKCRDKDEAEQAVSR
SANLVNPKQQEKLFVKLATSKTAVEDSDKAYMLHIGTLDKVREEWQSEHIKACEAFEAQECERINFFRNALWLHVNQLSQ
QCVTSDEMYEQVRKSLEMCSIQRDIEYFVNQRKTGQIPPAPIMYENFYSSQKNAVPAGKATRPNLARRGPLPIPKSSPDD
PNYSLVDDYSLLYQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004096557 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PSTPIP2 CLINVAR
OMIM 616046 CLINVAR