Variant #0000653943 (NC_000001.10:g.236201522C>T, NID1(NM_002508.2):c.1167G>A)

Chromosome 1
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.236201522C>T
DNA change (hg38) g.236038222C>T
Published as NID1(NM_002508.2):c.1167G>A (p.T389=)
ISCN -
DB-ID NID1_000036
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NID1 NM_002508.2 -?/. - c.1167G>A r.(?) p.(Thr389=)