ClinVar

NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031127 (on Assembly GRCh38)
• ChrX: 153296578 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp)

HGVS:

• NC_000023.11:g.154031127G>T
• NG_007107.3:g.110977C>A
• NM_001110792.2:c.737C>AMANE SELECT
• NM_001316337.2:c.422C>A
• NM_001369391.2:c.422C>A
• NM_001369392.2:c.422C>A
• NM_001369393.2:c.422C>A
• NM_001369394.2:c.422C>A
• NM_001386137.1:c.32C>A
• NM_001386138.1:c.32C>A
• NM_001386139.1:c.32C>A
• NM_004992.4:c.701C>A
• NP_001104262.1:p.Ala246Asp
• NP_001303266.1:p.Ala141Asp
• NP_001356320.1:p.Ala141Asp
• NP_001356321.1:p.Ala141Asp
• NP_001356322.1:p.Ala141Asp
• NP_001356323.1:p.Ala141Asp
• NP_001373066.1:p.Ala11Asp
• NP_001373067.1:p.Ala11Asp
• NP_001373068.1:p.Ala11Asp
• NP_004983.1:p.Ala234Asp
• NP_004983.1:p.Ala234Asp
• LRG_764t1:c.737C>A
• LRG_764t2:c.701C>A
• LRG_764:g.110977C>A
• LRG_764p1:p.Ala246Asp
• LRG_764p2:p.Ala234Asp
• NC_000023.10:g.153296578G>T
• NG_007107.2:g.111001C>A
• NM_004992.3:c.701C>A

This HGVS expression did not pass validation

Protein change:

A11D

Links:

dbSNP: rs138211345

NCBI 1000 Genomes Browser:

rs138211345

Molecular consequence:

• NM_001110792.2:c.737C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.422C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.422C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.422C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.422C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.422C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386137.1:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386138.1:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386139.1:c.32C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.701C>A - missense variant - [Sequence Ontology: SO:0001583]