RGD:13833263 Rat Genome Database

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Variant: RGD:13833263 -  Homo sapiens

RGD ID: 13833263
RS ID: rs1223515137
ClinVar ID: CV584493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 160,249,376
GRCh38 1 160,279,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193644.1:c.817-4C>T
NG_008637.1:g.10566C>T
NC_000001.11:g.160279586G>A
NC_000001.10:g.160249376G>A
More...
07/25/2017 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PEX19
Accession:NM_002857
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELA
SQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGL
GMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDS
ETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDALNLSGPSGASGEQCLIM*

Gene Symbol:PEX19
Accession:NR_036492
Location:EXON;NON-CODING

Gene Symbol:PEX19
Accession:NR_036493
Location:EXON;NON-CODING

Gene Symbol:PEX19
Accession:NM_001193644
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000728461 CLINVAR
dbSNP (RS) rs1223515137 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PEX19 CLINVAR
OMIM 600279 CLINVAR