ClinVar

NM_001374828.1(ARID1B):c.4439C>T (p.Pro1480Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157198867 (on Assembly GRCh38)
• Chr6: 157520001 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.4439C>T (p.Pro1480Leu)

HGVS:

• NC_000006.12:g.157198867C>T
• NG_066624.1:g.427842C>T
• NM_001346813.1:c.4190C>T
• NM_001363725.2:c.1940C>T
• NM_001371656.1:c.4319C>T
• NM_001374820.1:c.4319C>T
• NM_001374828.1:c.4439C>TMANE SELECT
• NM_017519.3:c.4280C>T
• NM_020732.3:c.4070C>T
• NM_175863.2:c.3857C>T
• NP_001333742.1:p.Pro1397Leu
• NP_001350654.1:p.Pro647Leu
• NP_001358585.1:p.Pro1440Leu
• NP_001361749.1:p.Pro1440Leu
• NP_001361757.1:p.Pro1480Leu
• NP_059989.3:p.Pro1427Leu
• NP_065783.3:p.Pro1357Leu
• NP_787059.2:p.Pro1286Leu
• NC_000006.11:g.157520001C>T

This HGVS expression did not pass validation

Protein change:

P1286L

Molecular consequence:

• NM_001346813.1:c.4190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363725.2:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371656.1:c.4319C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374820.1:c.4319C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374828.1:c.4439C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017519.3:c.4280C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020732.3:c.4070C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_175863.2:c.3857C>T - missense variant - [Sequence Ontology: SO:0001583]