Variant #0000298247 (NC_000009.11:g.4564432G>A, NM_004170.5:c.414G>A (SLC1A1))

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.4564432G>A
DNA change (hg38) g.4564432G>A
Published as SLC1A1(NM_004170.6):c.414G>A (p.T138=)
ISCN -
DB-ID SLC1A1_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.39232 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPATA6L NM_001039395.3 -/. - c.*36379C>T r.(=) p.(=)
SLC1A1 NM_004170.5 -/. - c.414G>A r.(?) p.(Thr138=)
PPAPDC2 NM_203453.3 -/. - c.-97944G>A r.(?) p.(=)


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