Variant #0000866379 (NC_000020.10:g.10412326A>C, MKKS(NM_170784.2):c.-649+2430T>G)

Chromosome 20
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.10412326A>C
DNA change (hg38) -
Published as MKKS(NM_018848.3):c.-649+6T>G
ISCN -
DB-ID MKKS_000141
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLX4IP NM_001009608.1 -?/. - c.-3805A>C r.(?) p.(=)
MKKS NM_170784.2 -?/. - c.-649+2430T>G r.(=) p.(=)