RGD:13533581 Rat Genome Database

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Variant: RGD:13533581 -  Homo sapiens

RGD ID: 13533581
RS ID: rs1557193865
ClinVar ID: CV510931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127898531  TAFAZZIN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,647,965
GRCh38 X 154,419,626
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009634.1:g.13089C>G
NC_000023.11:g.154419626C>G
NC_000023.10:g.153647965C>G
NM_000116.3:c.541+3C>G
More... 		10/21/2016 intron variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TAFAZZIN
Accession:NM_181312
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442408
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_047442407
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531189
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029761
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724839
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029764
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_017029763
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181311
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_011531191
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_181313
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_000116
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001410698
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724836
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:XM_006724837
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NM_001303465
Location:INTRON

Gene Symbol:TAFAZZIN
Accession:NR_024048
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000617747 CLINVAR
dbSNP (RS) rs1557193865 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene TAZ CLINVAR
OMIM 300394 CLINVAR