RGD:11646209 Rat Genome Database

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Variant: RGD:11646209 -  Homo sapiens

RGD ID: 11646209
RS ID: rs886062229
ClinVar ID: CV310715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  LOC124901820  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 24,797,541
GRCh38 7 24,757,922
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011593.1:g.5099C>T
NC_000007.14:g.24757922G>A
NC_000007.13:g.24797541G>A
NM_004403.3:c.-235C>T
More... 		06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance Deafness, autosomal dominant 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127454
Location:5UTRS;EXON

Gene Symbol:GSDME
Accession:NM_004403
Location:5UTRS;EXON

Gene Symbol:GSDME
Accession:XM_024446670
Location:5UTRS;INTRON

Gene Symbol:LOC124901820
Accession:XM_047421177
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTGNDVERDDFFGAAMMELERSWRMSRAWESLIAQTVLIQESLRKTTFSPPKGSRILLQAWALGAPTGWTGLGLSWLNR
EAAVSVHTPLWVAGSAPRGGAALKPHGPAQRRGEAAAEGRRSPLFPRGPDISRVSPEKRAGTPAERWAPPAASPAALGRP
DRAKVPAGGPSLRPPQAPAPRRPSAGSSDSASAGGAAAGDPAAGARVSARRARAAGSAPGSTPDPLWSVWVSRAGGSRGR
AALSLWATLPSLLPRGDESIGCPAAGTAGPVAPLASRIPGPVPSHHRVPPQLAVSIPFPSSPRPRCHFLPWMLEAQLVFS
FSQPPKPPLPIRSSFVFRSLLWVLRRLSRLGGVCAGRRTAEQIRSSVSLDGKKSPSTLLRYLESS*

Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:XM_017011802
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000269316 CLINVAR
dbSNP (RS) rs886062229 CLINVAR
MedGen C1832932 CLINVAR
NCBI Gene DFNA5 CLINVAR
  LOC129998104 CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR