Variant #0000071828 (NC_000005.9:g.131705698G>A, NM_003060.3:c.34G>A (SLC22A5))

Individual ID 00043781
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.131705698G>A
DNA change (hg38) g.132370006G>A
Published as -
ISCN -
DB-ID SLC22A5_000101
Variant remarks -
Reference PubMed: Hertz 2015, Journal: Hertz 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00073 View details
Owner Christin Hertz
Database submission license No license selected
Created by Christin Hertz
Date created 2015-06-19 14:25:11 +02:00 (CEST)
Date last edited 2016-04-29 15:12:43 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC22A5 NM_003060.3 +?/. 1 c.34G>A r.(?) p.(Gly12Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000044024 DNA SEQ-NG-I Blood - - 2 Christin Hertz


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