Variant #0000128573 (NC_000016.9:g.1840801A>G, IGFALS(NM_004970.2):c.1618T>C)

Individual ID 00079716
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1840801A>G
DNA change (hg38) g.1790800A>G
Published as -
ISCN -
DB-ID IGFALS_000005 See all 4 reported entries
Variant remarks -
Reference PubMed: Domene 2007, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner HM Domene
Database submission license No license selected
Created by HM Domene
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGFALS NM_004970.2 +/. 2 c.1618T>C r.(?) p.(Cys540Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079790 DNA SEQ - - IGFALS 2 HM Domene