Variant #0000675333 (NC_000003.11:g.49761065G>A, GMPPB(NM_021971.2):c.95C>T)

Individual ID 00307233
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.49761065G>A
DNA change (hg38) g.49723632G>A
Published as NM_198722:c.95C>T
ISCN -
DB-ID GMPPB_000003 See all 5 reported entries
Variant remarks -
Reference PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Gianina Ravenscroft
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 +/. - c.95C>T r.(?) p.(Pro32Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308375 DNA SEQ - - GMPPB 2 Gianina Ravenscroft