RGD:155940555 Rat Genome Database

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Variant: RGD:155940555 -  Homo sapiens

RGD ID: 155940555
ClinVar ID: CV2038061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDSN  PSORS1C1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,083,894
GRCh38 6 31,116,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.31116117G>A
NC_000006.11:g.31083894G>A
NP_001255.4:p.Arg500Trp
NM_014068.3:c.-229+1226G>A
More... 		10/12/2022 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PSORS1C1
Accession:NM_014068
Location:5UTRS;INTRON

Gene Symbol:CDSN
Accession:NM_001264
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 500
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISS
ARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSS
FQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYI
PSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVGGSSDSYLVPGMTYSKGKIYP
VGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQSAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPS
SSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPS
AGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLNSP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002775162 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CDSN CLINVAR
  PSORS1C1 CLINVAR
OMIM 602593 CLINVAR
  613525 CLINVAR