Variant #0000304142 (NC_000001.10:g.236228221G>A, NID1(NM_002508.2):c.159C>T)

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.236228221G>A
DNA change (hg38) g.236064921G>A
Published as NID1(NM_002508.2):c.159C>T (p.V53=)
ISCN -
DB-ID NID1_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00062 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NID1 NM_002508.2 -?/. - c.159C>T r.(?) p.(Val53=)