ClinVar

NM_001374828.1(ARID1B):c.4080C>T (p.His1360=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157190059 (on Assembly GRCh38)
• Chr6: 157511193 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.4080C>T (p.His1360=)

HGVS:

• NC_000006.12:g.157190059C>T
• NG_066624.1:g.419034C>T
• NM_001346813.1:c.3831C>T
• NM_001363725.2:c.1581C>T
• NM_001371656.1:c.3960C>T
• NM_001374820.1:c.3960C>T
• NM_001374828.1:c.4080C>TMANE SELECT
• NM_017519.3:c.3921C>T
• NM_020732.3:c.3711C>T
• NM_175863.2:c.3498C>T
• NP_001333742.1:p.His1277=
• NP_001350654.1:p.His527=
• NP_001358585.1:p.His1320=
• NP_001361749.1:p.His1320=
• NP_001361757.1:p.His1360=
• NP_059989.3:p.His1307=
• NP_065783.3:p.His1237=
• NP_787059.2:p.His1166=
• NC_000006.11:g.157511193C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001346813.1:c.3831C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363725.2:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371656.1:c.3960C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374820.1:c.3960C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374828.1:c.4080C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017519.3:c.3921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020732.3:c.3711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175863.2:c.3498C>T - synonymous variant - [Sequence Ontology: SO:0001819]