ClinVar

NM_001374828.1(ARID1B):c.5028G>A (p.Ala1676=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157201253 (on Assembly GRCh38)
• Chr6: 157522387 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.5028G>A (p.Ala1676=)

HGVS:

• NC_000006.12:g.157201253G>A
• NG_066624.1:g.430228G>A
• NM_001363725.2:c.2529G>A
• NM_001371656.1:c.4908G>A
• NM_001374820.1:c.4908G>A
• NM_001374828.1:c.5028G>AMANE SELECT
• NM_017519.3:c.4869G>A
• NM_020732.3:c.4659G>A
• NP_001350654.1:p.Ala843=
• NP_001358585.1:p.Ala1636=
• NP_001361749.1:p.Ala1636=
• NP_001361757.1:p.Ala1676=
• NP_059989.3:p.Ala1623=
• NP_065783.3:p.Ala1553=
• NC_000006.11:g.157522387G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs776881575

NCBI 1000 Genomes Browser:

rs776881575

Molecular consequence:

• NM_001363725.2:c.2529G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371656.1:c.4908G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374820.1:c.4908G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374828.1:c.5028G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017519.3:c.4869G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020732.3:c.4659G>A - synonymous variant - [Sequence Ontology: SO:0001819]