ClinVar

NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)

Gene:

LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 33283303 (on Assembly GRCh38)
• Chr22: 33679289 (on Assembly GRCh37)

Preferred name:

NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)

HGVS:

• NC_000022.11:g.33283303C>A
• NG_009929.2:g.642126G>T
• NM_001362949.2:c.1776G>T
• NM_001362951.2:c.1776G>T
• NM_001362953.2:c.1776G>T
• NM_001378624.1:c.1776G>T
• NM_001378625.1:c.1776G>T
• NM_001378626.1:c.1776G>T
• NM_001378627.1:c.1731-6048G>T
• NM_001378628.1:c.1731-6048G>T
• NM_001378629.1:c.1620G>T
• NM_001378630.1:c.1173G>T
• NM_001378631.1:c.972-6048G>T
• NM_004737.5:c.1776G>T
• NM_004737.7:c.1776G>T
• NM_133642.5:c.1776G>TMANE SELECT
• NP_001349878.1:p.Met592Ile
• NP_001349880.1:p.Met592Ile
• NP_001349882.1:p.Met592Ile
• NP_001365553.1:p.Met592Ile
• NP_001365554.1:p.Met592Ile
• NP_001365555.1:p.Met592Ile
• NP_001365558.1:p.Met540Ile
• NP_001365559.1:p.Met391Ile
• NP_004728.1:p.Met592Ile
• NP_598397.1:p.Met592Ile
• LRG_856t1:c.1776G>T
• LRG_856t2:c.1776G>T
• LRG_856:g.642126G>T
• LRG_856p1:p.Met592Ile
• LRG_856p2:p.Met592Ile
• NC_000022.10:g.33679289C>A
• NM_004737.4:c.1776G>T

This HGVS expression did not pass validation

Protein change:

M391I

Links:

dbSNP: rs576967464

NCBI 1000 Genomes Browser:

rs576967464

Molecular consequence:

• NM_001378627.1:c.1731-6048G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378628.1:c.1731-6048G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378631.1:c.972-6048G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362949.2:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362951.2:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362953.2:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378624.1:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378625.1:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378626.1:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378629.1:c.1620G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378630.1:c.1173G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004737.7:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133642.5:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1