Variant #0000616904 (NC_000017.10:g.78187976C>A, NM_000199.3:c.658G>T (SGSH))

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.78187976C>A
DNA change (hg38) g.80214177C>A
Published as SGSH(NM_000199.3):c.658G>T (p.(Val220Leu))
ISCN -
DB-ID SGSH_000092 See all 3 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) 0.00019 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGSH NM_000199.3 -?/. - c.658G>T r.(?) p.(Val220Leu)
CARD14 NM_024110.4 -?/. - c.*5832C>A r.(=) p.(=)


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