Variant #0000718622 (NC_000002.11:g.233406177C>T, CHRND(NM_000751.2):c.*6155C>T)

Chromosome 2
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.233406177C>T
DNA change (hg38) -
Published as CHRNG(NM_005199.5):c.444C>T (p.S148=)
ISCN -
DB-ID CHRND_000065
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRND NM_000751.2 -?/. - c.*6155C>T r.(=) p.(=)
CHRNG NM_005199.4 -?/. - c.444C>T r.(?) p.(Ser148=)