ClinVar

NM_016454.4(EMC4):c.322C>T (p.Arg108Ter)

Gene:

EMC4:ER membrane protein complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

• Chr15: 34227813 (on Assembly GRCh38)
• Chr15: 34520014 (on Assembly GRCh37)

Preferred name:

NM_016454.4(EMC4):c.322C>T (p.Arg108Ter)

HGVS:

• NC_000015.10:g.34227813C>T
• NG_054746.1:g.7817C>T
• NM_001286420.2:c.322C>T
• NM_001351373.2:c.79C>T
• NM_016454.4:c.322C>TMANE SELECT
• NP_001273349.1:p.Arg108Ter
• NP_001338302.1:p.Arg27Ter
• NP_057538.1:p.Arg108Ter
• NC_000015.9:g.34520014C>T
• NR_147140.2:n.429C>T

This HGVS expression did not pass validation

Protein change:

R108*

Links:

dbSNP: rs779743332

NCBI 1000 Genomes Browser:

rs779743332

Molecular consequence:

• NR_147140.2:n.429C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001286420.2:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351373.2:c.79C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_016454.4:c.322C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1