Variant #0000514824 (NC_000002.11:g.220419327C>T, OBSL1(NM_001173408.1):c.*7279G>A)

Chromosome 2
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.220419327C>T
DNA change (hg38) g.219554605C>T
Published as OBSL1(NM_015311.2):c.4745G>A (p.G1582E), OBSL1(NM_015311.3):c.4745G>A (p.G1582E)
ISCN -
DB-ID CHPF_000013 See all 2 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) 9.0E-5 View details
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     
TMEM198 NM_001005209.1 -?/. - c.*4751C>T r.(=) p.(=)
OBSL1 NM_001173408.1 -?/. - c.*7279G>A r.(=) p.(=)
CHPF NM_024536.5 -?/. - c.-11067G>A r.(?) p.(=)