Variant #0000896328 (NC_000023.10:g.67518885_67518886insT, NM_002547.2:c.207_208insA (OPHN1))

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.67518885_67518886insT
DNA change (hg38) -
Published as OPHN1(NM_002547.3):c.207_208insA (p.D70Rfs*9)
ISCN -
DB-ID OPHN1_000107
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) Retrieve
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2022-11-01 13:41:49 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OPHN1 NM_002547.2 +/. - c.207_208insA r.(?) p.(Asp70Argfs*9)


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