Variant #0000613485 (NC_000011.9:g.62382123del, ROM1(NM_000327.3):c.868del)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.62382123del
DNA change (hg38) g.62614651del
Published as ROM1(NM_000327.3):c.868delC (p.Q290Kfs*26)
ISCN -
DB-ID B3GAT3_000024
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) 0.00163 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ROM1 NM_000327.3 -/. - c.868del r.(?) p.(Gln290LysfsTer26)
B3GAT3 NM_012200.3 -/. - c.*1050del r.(?) p.(=)
EML3 NM_153265.2 -/. - c.-2194del r.(?) p.(=)