rs1057520855 Rat Genome Database

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Variant: rs1057520855 -  Homo sapiens

RGD ID: 12847906
RS ID: rs1057520855
ClinVar ID: CV373047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRICKLE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 42,859,977
GRCh38 12 42,466,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012965.1:g.128596C>T
NC_000012.12:g.42466175G>A
NC_000012.11:g.42859977G>A
NM_001144881.2:c.775+19C>T
More...
07/13/2016 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PRICKLE1
Accession:XM_011537946
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428333
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428334
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428328
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_153026
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_011537947
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428332
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_017018838
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428329
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_001144882
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428327
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_017018840
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428335
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_001144883
Location:INTRON

Gene Symbol:PRICKLE1
Accession:NM_001144881
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_017018839
Location:INTRON

Gene Symbol:PRICKLE1
Accession:XM_047428330
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000444334 CLINVAR
dbSNP (RS) rs1057520855 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PRICKLE1 CLINVAR
OMIM 608500 CLINVAR