Variant #0000814564 (NC_000020.10:g.10386314T>A, MKKS(NM_170784.2):c.1294A>T)

Individual ID 00385583
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.10386314T>A
DNA change (hg38) -
Published as c.1294A>T(h)
ISCN -
DB-ID MKKS_000075 See all 3 reported entries
Variant remarks -
Reference PubMed: Janssen-2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.017
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MKKS NM_170784.2 ?/. 6 c.1294A>T r.(?) p.(Ile432Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386812 DNA SEQ;HD - SEQ or HD BBS2 3 LOVD