Variant #0000304145 (NC_000001.10:g.236180455C>T, NID1(NM_002508.2):c.2247G>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.236180455C>T
DNA change (hg38) g.236017155C>T
Published as NID1(NM_002508.2):c.2247G>A (p.T749=)
ISCN -
DB-ID NID1_000009
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) 0.002 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.2247G>A r.(?) p.(Thr749=)