RGD:155918795 Rat Genome Database

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Variant: RGD:155918795 -  Homo sapiens

RGD ID: 155918795
ClinVar ID: CV2333071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSTPIP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 43,591,244
GRCh38 18 46,011,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.9:g.43591244T>C
NM_024430.3:c.257A>G
NP_077748.3:p.Asn86Ser
NM_024430.4:c.257A>G
More... 		10/12/2021 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PSTPIP2
Accession:NM_024430
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRSLFKGNFWSADILSTIGYDNIIQHLNNGRKNCKEFEDFLKERAAIEERYGKDLLNLSRKKPCGQSEINTLKRALEVF
KQQVDSVAQCHIQLAQSLREEARKMEEFREKQKLQRKKTELIMDAIHKQKSLQFKKTMDAKKNYEQKCRDKDEAEQAVSR
SANLVNPKQQEKLFVKLATSKTAVEDSDKAYMLHIGTLDKVREEWQSEHIKACEAFEAQECERINFFRNALWLHVNQLSQ
QCVTSDEMYEQVRKSLEMCSIQRDIEYFVNQRKTGQIPPAPIMYENFYSSQKNAVPAGKATGPNLARRGPLPIPKSSPDD
PNYSLVDDYSLLYQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004194366 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PSTPIP2 CLINVAR
OMIM 616046 CLINVAR