Variant #0000913732 (NC_000012.11:g.102813438C>T, IGF1(NM_000618.3):c.251G>A)

Chromosome 12
Allele Unknown
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.102813438C>T
DNA change (hg38) -
Published as IGF1(NM_000618.3):c.251G>A (p.(Arg84Gln))
ISCN -
DB-ID IGF1_000004 See all 2 reported entries
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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IGF1 NM_000618.3 +/. - c.251G>A r.(?) p.(Arg84Gln)
IGF1 NM_001111283.1 +/. - c.251G>A r.(?) p.(Arg84Gln)