ClinVar

NM_001145664.2(RFX8):c.1291A>C (p.Lys431Gln)

Gene:

RFX8:regulatory factor X8 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

• Chr2: 101397679 (on Assembly GRCh38)
• Chr2: 102014141 (on Assembly GRCh37)

Preferred name:

NM_001145664.2(RFX8):c.1291A>C (p.Lys431Gln)

HGVS:

• NC_000002.12:g.101397679T>G
• NM_001145664.2:c.1291A>CMANE SELECT
• NM_001367508.1:c.778A>C
• NM_001367509.1:c.778A>C
• NM_001367510.1:c.778A>C
• NP_001139136.2:p.Lys431Gln
• NP_001354437.1:p.Lys260Gln
• NP_001354438.1:p.Lys260Gln
• NP_001354439.1:p.Lys260Gln
• NC_000002.11:g.102014141T>G
• NM_001145664.1:c.1291A>C

This HGVS expression did not pass validation

Protein change:

K260Q

Molecular consequence:

• NM_001145664.2:c.1291A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367508.1:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367509.1:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367510.1:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]