Variant #0000486875 (NC_000019.9:g.12775761C>T, NM_000528.3:c.475G>A (MAN2B1))

Individual ID 00239992
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.12775761C>T
DNA change (hg38) g.12664947C>T
Published as -
ISCN -
DB-ID MAN2B1_000007
Variant remarks submitted through SIB; ExPASy_068038; The mutant has less than 20% of WT alpha-mannosidase activity
Reference PubMed: Riise Stensland et al (2012)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner SIB - Livia Famiglietti
Database submission license No license selected
Created by SIB - Livia Famiglietti
Date created 2012-06-05 09:48:53 +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     
MAN2B1 NM_000528.3 +/? ? c.475G>A r.(?) p.(Asp159Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241096 DNA SEQ - - MAN2B1 1 SIB - Livia Famiglietti


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