ClinVar

NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)

Genes:

ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

• Chr13: 52028352 (on Assembly GRCh38)
• Chr13: 52602488 (on Assembly GRCh37)

Preferred name:

NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)

HGVS:

• NC_000013.11:g.52028352T>A
• NG_028038.1:g.20966T>A
• NG_028038.2:g.20956T>A
• NM_001004127.3:c.1241T>AMANE SELECT
• NM_021645.6:c.-453T>AMANE SELECT
• NP_001004127.2:p.Ile414Asn
• NP_001004127.2:p.Ile414Asn
• NP_001004127.2:p.Ile414Asn
• NC_000013.10:g.52602488T>A
• NM_001004127.2:c.1241T>A
• NR_036571.3:n.99T>A

This HGVS expression did not pass validation

Protein change:

I414N

Links:

dbSNP: rs398123525

NCBI 1000 Genomes Browser:

rs398123525

Molecular consequence:

• NM_021645.6:c.-453T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001004127.3:c.1241T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_036571.3:n.99T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218]

Observations:

2