ClinVar

NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)

Gene:

SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153797512 (on Assembly GRCh38)
• ChrX: 153062967 (on Assembly GRCh37)

Preferred name:

NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)

HGVS:

• NC_000023.11:g.153797512C>T
• NG_041795.1:g.8338C>T
• NM_001204526.1:c.274C>T
• NM_001204527.2:c.265C>T
• NM_006280.3:c.241C>TMANE SELECT
• NP_001191455.1:p.Gln92Ter
• NP_001191456.1:p.Gln89Ter
• NP_006271.1:p.Gln81Ter
• NC_000023.10:g.153062967C>T
• NR_037927.1:n.586C>T
• p.Gln92*

This HGVS expression did not pass validation

Protein change:

Q81*

Links:

dbSNP: rs2092148846

NCBI 1000 Genomes Browser:

rs2092148846

Molecular consequence:

• NR_037927.1:n.586C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001204526.1:c.274C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001204527.2:c.265C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_006280.3:c.241C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1