Variant #0000859765 (NC_000005.9:g.137206489A>G, MYOT(NM_006790.2):c.149A>G)

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.137206489A>G
DNA change (hg38) -
Published as MYOT(NM_001135940.1):c.-197+275A>G (p.(=)), MYOT(NM_006790.2):c.149A>G (p.Q50R)
ISCN -
DB-ID MYOT_000010 See all 3 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) 0.00593 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 2022-05-09 15:51:19 +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     
MYOT NM_006790.2 -?/. - c.149A>G r.(?) p.(Gln50Arg)