ClinVar

NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157201089 (on Assembly GRCh38)
• Chr6: 157522223 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu)

HGVS:

• NC_000006.12:g.157201089A>T
• NG_066624.1:g.430064A>T
• NM_001363725.2:c.2365A>T
• NM_001371656.1:c.4744A>T
• NM_001374820.1:c.4744A>T
• NM_001374828.1:c.4864A>TMANE SELECT
• NM_017519.3:c.4705A>T
• NM_020732.3:c.4495A>T
• NP_001350654.1:p.Met789Leu
• NP_001358585.1:p.Met1582Leu
• NP_001361749.1:p.Met1582Leu
• NP_001361757.1:p.Met1622Leu
• NP_059989.3:p.Met1569Leu
• NP_065783.3:p.Met1499Leu
• NC_000006.11:g.157522223A>T
• NM_001374828.1:c.4864A>T

This HGVS expression did not pass validation

Protein change:

M1499L

Links:

dbSNP: rs34870395

NCBI 1000 Genomes Browser:

rs34870395

Molecular consequence:

• NM_001363725.2:c.2365A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371656.1:c.4744A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374820.1:c.4744A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374828.1:c.4864A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017519.3:c.4705A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020732.3:c.4495A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4