Variant #0000313314 (NC_000011.9:g.2186970G>A, INS(NM_000207.2):c.-4590C>T)

Chromosome 11
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.2186970G>A
DNA change (hg38) g.2165740G>A
Published as TH(NM_199292.3):c.1221C>T (p.F407=)
ISCN -
DB-ID TH_000014
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) 0.0001 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
INS NM_000207.2 -?/. - c.-4590C>T - r.(?) p.(=)
TH NM_000360.3 -?/. - c.1128C>T - r.(?) p.(Phe376=)
IGF2 NM_000612.4 -?/. - c.-27518C>T - r.(?) p.(=)
INS-IGF2 NM_001042376.2 -?/. - c.-4590C>T - r.(?) p.(=)
TH NM_199292.2 -?/. - c.1221C>T - r.(?) p.(Phe407=)