RGD:405774397 Rat Genome Database

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Variant: RGD:405774397 -  Homo sapiens

RGD ID: 405774397
ClinVar ID: CV3343815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPCN2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 68,822,770
GRCh38 11 69,055,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_139075.4:c.379A>T
NG_016153.2:g.11372A>T
NG_016153.1:g.11421A>T
NC_000011.10:g.69055302A>T
More... 		09/26/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TPCN2
Accession:NM_139075
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPQAESEPLLGGARGGGGDWPAGLTTYRSIQVGPGAAARWDLCIDQAVVFIEDAIQYRSINHRVDASSMWLYRRYYSN
VCQRTLSFTIFLILFLAFIETPSSLTSTADVRYRAAPWEPPCGLTECVEVLCLLVFAADLSVKGYLFGWAHFQKNLWLLG
YLVVLVVSLVDWTVSLSLVCHEPLRIRRLLRPFFLLQNSSMMKKTLKCIRWSLPEMASVGLLLAIHLCLFTMFGMLLFAG
GKQDDGQDRERLTYFQNLPESLTSLLVLLTTANNPDVMIPAYSKNRAYAIFFIVFTVIGSLFLMNLLTAIIYSQFRGYLM
KSLQTSLFRRRLGTRAAFEVLSSMVGEGGAFPQAVGVKPQNLLQVLQKVQLDSSHKQAMMEKVRSYGSVLLSAEEFQKLF
NELDRSVVKEHPPRPEYQSPFLQSAQFLFGHYYFDYLGNLIALANLVSICVFLVLDADVLPAERDDFILGILNCVFIVYY
LLEMLLKVFALGLRGYLSYPSNVFDGLLTVVLLVLEISTLAVYRLPHPGWRPEMVGLLSLWDMTRMLNMLIVFRFLRIIP
SMKLMAVVASTVLGLVQNMRAFGGILVVVYYVFAIIGINLFRGVIVALPGNSSLAPANGSAPCGSFEQLEYWANNFDDFA
AALVTLWNLMVVNNWQVFLDAYRRYSGPWSKIYFVLWWLVSSVIWVNLFLALILENFLHKWDPRSHLQPLAGTPEATYQM
TVELLFRDILEEPGEDELTERLSQHPHLWLCR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004470851 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TPCN2 CLINVAR
OMIM 612163 CLINVAR