Variant #0000841669 (NC_000016.9:g.1841062G>C, IGFALS(NM_004970.2):c.1357C>G)

Chromosome 16
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.1841062G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID NUBP2_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs149707428
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00089 View details
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2022-03-01 08:01:02 +01:00 (CET)
Date last edited 2022-09-26 12:22:42 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 -?/. - c.1357C>G r.(?) p.(Leu453Val)