ClinVar

NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)

Gene:

NGLY1:N-glycanase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.2

Genomic location:

• Chr3: 25732455 (on Assembly GRCh38)
• Chr3: 25773946 (on Assembly GRCh37)

Preferred name:

NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)

HGVS:

• NC_000003.12:g.25732455C>T
• NG_034108.1:g.62585G>A
• NM_001145293.2:c.1235G>A
• NM_001145294.2:c.1163G>A
• NM_001145295.2:c.1289G>A
• NM_018297.4:c.1289G>AMANE SELECT
• NP_001138765.1:p.Arg412Lys
• NP_001138766.1:p.Arg388Lys
• NP_001138767.1:p.Arg430Lys
• NP_060767.2:p.Arg430Lys
• NC_000003.11:g.25773946C>T
• NM_018297.3:c.1289G>A

This HGVS expression did not pass validation

Protein change:

R388K

Links:

dbSNP: rs201442228

NCBI 1000 Genomes Browser:

rs201442228

Molecular consequence:

• NM_001145293.2:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145294.2:c.1163G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145295.2:c.1289G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018297.4:c.1289G>A - missense variant - [Sequence Ontology: SO:0001583]