Variant #0001035279 (NC_000005.9:g.64976311G>C, NM_020726.4:c.-41890G>C (NLN))

Chromosome 5
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.64976311G>C
DNA change (hg38) -
Published as SGTB(NM_019072.3):c.681+10C>G
ISCN -
DB-ID NLN_000002
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) 0.00419 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 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGTB NM_019072.2 -?/. - c.681+10C>G r.(=) p.(=)
NLN NM_020726.4 -?/. - c.-41890G>C r.(?) p.(=)
TRAPPC13 NM_024941.3 -?/. - c.*15873G>C r.(=) p.(=)


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