ClinVar

NM_006015.6(ARID1A):c.299T>C (p.Leu100Pro)

Gene:

ARID1A:AT-rich interaction domain 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 26696702 (on Assembly GRCh38)
• Chr1: 27023193 (on Assembly GRCh37)

Preferred name:

NM_006015.6(ARID1A):c.299T>C (p.Leu100Pro)

HGVS:

• NC_000001.11:g.26696702T>C
• NG_029965.1:g.5672T>C
• NG_090122.2:g.1955T>C
• NG_090123.1:g.1018T>C
• NM_006015.6:c.299T>CMANE SELECT
• NM_139135.4:c.299T>C
• NP_006006.3:p.Leu100Pro
• NP_006006.3:p.Leu100Pro
• NP_624361.1:p.Leu100Pro
• LRG_875t1:c.299T>C
• LRG_875:g.5672T>C
• LRG_875p1:p.Leu100Pro
• NC_000001.10:g.27023193T>C
• NM_006015.4:c.299T>C

This HGVS expression did not pass validation

Protein change:

L100P

Molecular consequence:

• NM_006015.6:c.299T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_139135.4:c.299T>C - missense variant - [Sequence Ontology: SO:0001583]