Variant #0000459761 (NC_000001.10:g.236143795C>T, NID1(NM_002508.2):c.3385+1G>A)

Individual ID 00225682
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.236143795C>T
DNA change (hg38) g.235980495C>T
Published as -
ISCN -
DB-ID NID1_000019
Variant remarks -
Reference PubMed: Alazami 2015, Journal: Alazami 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NID1 NM_002508.2 +/. - c.3385+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226749 DNA SEQ;SEQ-NG - WES NID1 1 Johan den Dunnen