ClinVar

NM_001374828.1(ARID1B):c.3682G>T (p.Val1228Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157181146 (on Assembly GRCh38)
• Chr6: 157502280 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.3682G>T (p.Val1228Phe)

HGVS:

• NC_000006.12:g.157181146G>T
• NG_066624.1:g.410121G>T
• NM_001346813.1:c.3433G>T
• NM_001363725.2:c.1183G>T
• NM_001371656.1:c.3562G>T
• NM_001374820.1:c.3562G>T
• NM_001374828.1:c.3682G>TMANE SELECT
• NM_017519.3:c.3523G>T
• NM_020732.3:c.3313G>T
• NM_175863.2:c.3100G>T
• NP_001333742.1:p.Val1145Phe
• NP_001350654.1:p.Val395Phe
• NP_001358585.1:p.Val1188Phe
• NP_001361749.1:p.Val1188Phe
• NP_001361757.1:p.Val1228Phe
• NP_059989.3:p.Val1175Phe
• NP_065783.3:p.Val1105Phe
• NP_787059.2:p.Val1034Phe
• NC_000006.11:g.157502280G>T

This HGVS expression did not pass validation

Protein change:

V1034F

Molecular consequence:

• NM_001346813.1:c.3433G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363725.2:c.1183G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371656.1:c.3562G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374820.1:c.3562G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374828.1:c.3682G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017519.3:c.3523G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020732.3:c.3313G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_175863.2:c.3100G>T - missense variant - [Sequence Ontology: SO:0001583]