ClinVar

NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)

Gene:

ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157207463 (on Assembly GRCh38)
• Chr6: 157528597 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)

HGVS:

• NC_000006.12:g.157207463C>T
• NG_066624.1:g.436438C>T
• NM_001363725.2:c.4192C>T
• NM_001371656.1:c.6571C>T
• NM_001374820.1:c.6571C>T
• NM_001374828.1:c.6691C>TMANE SELECT
• NM_017519.3:c.6532C>T
• NM_020732.3:c.6322C>T
• NP_001350654.1:p.Gln1398Ter
• NP_001358585.1:p.Gln2191Ter
• NP_001361749.1:p.Gln2191Ter
• NP_001361757.1:p.Gln2231Ter
• NP_059989.3:p.Gln2178Ter
• NP_065783.3:p.Gln2108Ter
• NC_000006.11:g.157528597C>T
• NM_001374828.1:c.6691C>T

This HGVS expression did not pass validation

Protein change:

Q1398*

Links:

dbSNP: rs1554238035

NCBI 1000 Genomes Browser:

rs1554238035

Molecular consequence:

• NM_001363725.2:c.4192C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001371656.1:c.6571C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374820.1:c.6571C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374828.1:c.6691C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_017519.3:c.6532C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_020732.3:c.6322C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1