ClinVar

NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157207109 (on Assembly GRCh38)
• Chr6: 157528243 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)

HGVS:

• NC_000006.12:g.157207109C>T
• NG_066624.1:g.436084C>T
• NM_001346813.1:c.6088C>T
• NM_001363725.2:c.3838C>T
• NM_001371656.1:c.6217C>T
• NM_001374820.1:c.6217C>T
• NM_001374828.1:c.6337C>TMANE SELECT
• NM_017519.3:c.6178C>T
• NM_020732.3:c.5968C>T
• NP_001333742.1:p.Arg2030Ter
• NP_001350654.1:p.Arg1280Ter
• NP_001358585.1:p.Arg2073Ter
• NP_001361749.1:p.Arg2073Ter
• NP_001361757.1:p.Arg2113Ter
• NP_059989.3:p.Arg2060Ter
• NP_065783.3:p.Arg1990Ter
• NC_000006.11:g.157528243C>T
• NM_001374828.1:c.6337C>T

This HGVS expression did not pass validation

Protein change:

R1280*

Links:

dbSNP: rs797045283

NCBI 1000 Genomes Browser:

rs797045283

Molecular consequence:

• NM_001346813.1:c.6088C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001363725.2:c.3838C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001371656.1:c.6217C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374820.1:c.6217C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001374828.1:c.6337C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_017519.3:c.6178C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_020732.3:c.5968C>T - nonsense - [Sequence Ontology: SO:0001587]