ClinVar

NM_001374828.1(ARID1B):c.5127G>A (p.Thr1709=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157201352 (on Assembly GRCh38)
• Chr6: 157522486 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.5127G>A (p.Thr1709=)

HGVS:

• NC_000006.12:g.157201352G>A
• NG_066624.1:g.430327G>A
• NM_001346813.1:c.4878G>A
• NM_001363725.2:c.2628G>A
• NM_001371656.1:c.5007G>A
• NM_001374820.1:c.5007G>A
• NM_001374828.1:c.5127G>AMANE SELECT
• NM_017519.3:c.4968G>A
• NM_020732.3:c.4758G>A
• NM_175863.2:c.4545G>A
• NP_001333742.1:p.Thr1626=
• NP_001350654.1:p.Thr876=
• NP_001358585.1:p.Thr1669=
• NP_001361749.1:p.Thr1669=
• NP_001361757.1:p.Thr1709=
• NP_059989.3:p.Thr1656=
• NP_065783.3:p.Thr1586=
• NP_787059.2:p.Thr1515=
• NC_000006.11:g.157522486G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001346813.1:c.4878G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363725.2:c.2628G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371656.1:c.5007G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374820.1:c.5007G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374828.1:c.5127G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017519.3:c.4968G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020732.3:c.4758G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175863.2:c.4545G>A - synonymous variant - [Sequence Ontology: SO:0001819]