Variant #0000605442 (NC_000001.10:g.236141202T>C, NID1(NM_002508.2):c.3709A>G)

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.236141202T>C
DNA change (hg38) g.235977902T>C
Published as NID1(NM_002508.2):c.3709A>G (p.N1237D)
ISCN -
DB-ID NID1_000027
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NID1 NM_002508.2 -?/. - c.3709A>G r.(?) p.(Asn1237Asp)