ClinVar

NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031286 (on Assembly GRCh38)
• ChrX: 153296737 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)

Other names:

NM_001110792.2(MECP2):c.578C>T; p.Ala193Val

HGVS:

• NC_000023.11:g.154031286G>A
• NG_007107.3:g.110818C>T
• NM_001110792.2:c.578C>TMANE SELECT
• NM_001316337.2:c.263C>T
• NM_001369391.2:c.263C>T
• NM_001369392.2:c.263C>T
• NM_001369393.2:c.263C>T
• NM_001369394.2:c.263C>T
• NM_001386137.1:c.-128C>T
• NM_001386138.1:c.-128C>T
• NM_001386139.1:c.-128C>T
• NM_004992.4:c.542C>T
• NP_001104262.1:p.Ala193Val
• NP_001303266.1:p.Ala88Val
• NP_001356320.1:p.Ala88Val
• NP_001356321.1:p.Ala88Val
• NP_001356322.1:p.Ala88Val
• NP_001356323.1:p.Ala88Val
• NP_004983.1:p.Ala181Val
• NP_004983.1:p.Ala181Val
• LRG_764t1:c.578C>T
• LRG_764t2:c.542C>T
• AJ132917.1:c.542C>T
• LRG_764:g.110818C>T
• LRG_764p1:p.Ala193Val
• LRG_764p2:p.Ala181Val
• NC_000023.10:g.153296737G>A
• NG_007107.2:g.110842C>T
• NM_004992.3:c.542C>T
• P51608:p.Ala181Val

This HGVS expression did not pass validation

Protein change:

A181V

Links:

UniProtKB: P51608#VAR_018193; dbSNP: rs61749705

NCBI 1000 Genomes Browser:

rs61749705

Molecular consequence:

• NM_001386137.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-128C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.578C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]