Variant #0000605444 (NC_000001.10:g.236180530G>A, NID1(NM_002508.2):c.2172C>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.236180530G>A
DNA change (hg38) g.236017230G>A
Published as NID1(NM_002508.2):c.2172C>T (p.H724=)
ISCN -
DB-ID NID1_000033
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) 8.0E-5 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.2172C>T r.(?) p.(His724=)