Variant #0000553831 (NC_000015.9:g.28948062G>C, NC_000015.9(NM_001282468.1):c.1369-171C>G (GOLGA8M))

Chromosome 15
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.28948062G>C
DNA change (hg38) g.28702916G>C
Published as GOLGA8M(XM_003959978.2):c.1253C>G (p.(Ala418Gly))
ISCN -
DB-ID GOLGA8M_000006
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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
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     
GOLGA8M NM_001282468.1 -?/. - c.1369-171C>G r.(=) p.(=)


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