Variant #0000784534 (NC_000007.13:g.128035176T>C, NC_000007.13(NM_000883.3):c.1405+9A>G (IMPDH1))

Individual ID 00372652
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.128035176T>C
DNA change (hg38) g.128395122T>C
Published as -
ISCN -
DB-ID IMPDH1_000062 See all 8 reported entries
Variant remarks -
Reference PubMed: Xu 2014
ClinVar ID -
dbSNP ID rs11562030
Origin Germline
Segregation -
Frequency 8/314 case chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00134 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-10 13:08:15 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPDH1 NM_000883.3 ?/. - c.1405+9A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373884 DNA SEQ-NG - gene panel - 9 LOVD


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