Variant #0000563609 (NC_000017.10:g.78188509C>T, NM_000199.3:c.411G>A (SGSH))

Chromosome 17
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.78188509C>T
DNA change (hg38) g.80214710C>T
Published as SGSH(NM_000199.4):c.411G>A (p.A137=), SGSH(NM_000199.5):c.411G>A (p.A137=)
ISCN -
DB-ID SGSH_000079 See all 2 reported entries
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) 0.00244 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2024-08-28 13:16:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGSH NM_000199.3 -/. - c.411G>A r.(?) p.(Ala137=)
CARD14 NM_024110.4 -/. - c.*6365C>T r.(=) p.(=)


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