ClinVar

NM_001374828.1(ARID1B):c.4140C>T (p.Asn1380=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157190119 (on Assembly GRCh38)
• Chr6: 157511253 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.4140C>T (p.Asn1380=)

HGVS:

• NC_000006.12:g.157190119C>T
• NG_066624.1:g.419094C>T
• NM_001363725.2:c.1641C>T
• NM_001371656.1:c.4020C>T
• NM_001374820.1:c.4020C>T
• NM_001374828.1:c.4140C>TMANE SELECT
• NM_017519.3:c.3981C>T
• NM_020732.3:c.3771C>T
• NP_001350654.1:p.Asn547=
• NP_001358585.1:p.Asn1340=
• NP_001361749.1:p.Asn1340=
• NP_001361757.1:p.Asn1380=
• NP_059989.3:p.Asn1327=
• NP_065783.3:p.Asn1257=
• NC_000006.11:g.157511253C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370523060

NCBI 1000 Genomes Browser:

rs370523060

Molecular consequence:

• NM_001363725.2:c.1641C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371656.1:c.4020C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374820.1:c.4020C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374828.1:c.4140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017519.3:c.3981C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020732.3:c.3771C>T - synonymous variant - [Sequence Ontology: SO:0001819]