Variant #0000949482 (NC_000010.10:g.97969596G>A, NM_013314.3:c.744C>T (BLNK))

Chromosome 10
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.97969596G>A
DNA change (hg38) -
Published as BLNK(NM_013314.3):c.744C>T (p.A248=)
ISCN -
DB-ID BLNK_000012 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) 0.00046 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BLNK NM_013314.3 -?/. - c.744C>T r.(?) p.(Ala248=)
ZNF518A NM_014803.3 -?/. - c.*49066G>A r.(=) p.(=)


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