ClinVar

NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)

Gene:

MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154030395 (on Assembly GRCh38)
• ChrX: 153295846 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)

Other names:

p.R478Q:CGG>CAG; NM_001110792.2(MECP2):c.1469G>A; p.Arg490Gln

HGVS:

• NC_000023.11:g.154030395C>T
• NG_007107.3:g.111709G>A
• NM_001110792.2:c.1469G>AMANE SELECT
• NM_001316337.2:c.1154G>A
• NM_001369391.2:c.1154G>A
• NM_001369392.2:c.1154G>A
• NM_001369393.2:c.1154G>A
• NM_001369394.2:c.1154G>A
• NM_001386137.1:c.764G>A
• NM_001386138.1:c.764G>A
• NM_001386139.1:c.764G>A
• NM_004992.4:c.1433G>A
• NP_001104262.1:p.Arg490Gln
• NP_001303266.1:p.Arg385Gln
• NP_001356320.1:p.Arg385Gln
• NP_001356321.1:p.Arg385Gln
• NP_001356322.1:p.Arg385Gln
• NP_001356323.1:p.Arg385Gln
• NP_001373066.1:p.Arg255Gln
• NP_001373067.1:p.Arg255Gln
• NP_001373068.1:p.Arg255Gln
• NP_004983.1:p.Arg478Gln
• NP_004983.1:p.Arg478Gln
• LRG_764t1:c.1469G>A
• LRG_764t2:c.1433G>A
• LRG_764:g.111709G>A
• LRG_764p1:p.Arg490Gln
• LRG_764p2:p.Arg478Gln
• NC_000023.10:g.153295846C>T
• NG_007107.2:g.111733G>A
• NM_004992.3:c.1433G>A

This HGVS expression did not pass validation

Protein change:

R255Q

Links:

dbSNP: rs145790362

NCBI 1000 Genomes Browser:

rs145790362

Molecular consequence:

• NM_001110792.2:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386137.1:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386138.1:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386139.1:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.1433G>A - missense variant - [Sequence Ontology: SO:0001583]