ClinVar

NM_001374828.1(ARID1B):c.5149G>A (p.Gly1717Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157201374 (on Assembly GRCh38)
• Chr6: 157522508 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.5149G>A (p.Gly1717Arg)

HGVS:

• NC_000006.12:g.157201374G>A
• NG_066624.1:g.430349G>A
• NM_001363725.2:c.2650G>A
• NM_001371656.1:c.5029G>A
• NM_001374820.1:c.5029G>A
• NM_001374828.1:c.5149G>AMANE SELECT
• NM_017519.3:c.4990G>A
• NM_020732.3:c.4780G>A
• NP_001350654.1:p.Gly884Arg
• NP_001358585.1:p.Gly1677Arg
• NP_001361749.1:p.Gly1677Arg
• NP_001361757.1:p.Gly1717Arg
• NP_059989.3:p.Gly1664Arg
• NP_065783.3:p.Gly1594Arg
• NC_000006.11:g.157522508G>A

This HGVS expression did not pass validation

Protein change:

G1594R

Links:

dbSNP: rs1329932861

NCBI 1000 Genomes Browser:

rs1329932861

Molecular consequence:

• NM_001363725.2:c.2650G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371656.1:c.5029G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374820.1:c.5029G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374828.1:c.5149G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017519.3:c.4990G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020732.3:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]