ClinVar

NM_001374828.1(ARID1B):c.5132C>T (p.Pro1711Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

• Chr6: 157201357 (on Assembly GRCh38)
• Chr6: 157522491 (on Assembly GRCh37)

Preferred name:

NM_001374828.1(ARID1B):c.5132C>T (p.Pro1711Leu)

HGVS:

• NC_000006.12:g.157201357C>T
• NG_066624.1:g.430332C>T
• NM_001363725.2:c.2633C>T
• NM_001371656.1:c.5012C>T
• NM_001374820.1:c.5012C>T
• NM_001374828.1:c.5132C>TMANE SELECT
• NM_017519.3:c.4973C>T
• NM_020732.3:c.4763C>T
• NP_001350654.1:p.Pro878Leu
• NP_001358585.1:p.Pro1671Leu
• NP_001361749.1:p.Pro1671Leu
• NP_001361757.1:p.Pro1711Leu
• NP_059989.3:p.Pro1658Leu
• NC_000006.11:g.157522491C>T

This HGVS expression did not pass validation

Protein change:

P1658L

Links:

dbSNP: rs781086610

NCBI 1000 Genomes Browser:

rs781086610

Molecular consequence:

• NM_001363725.2:c.2633C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371656.1:c.5012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374820.1:c.5012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374828.1:c.5132C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017519.3:c.4973C>T - missense variant - [Sequence Ontology: SO:0001583]