ClinVar

NM_001110792.2(MECP2):c.563C>A (p.Pro188His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031301 (on Assembly GRCh38)
• ChrX: 153296752 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.563C>A (p.Pro188His)

Other names:

NM_001110792.2(MECP2):c.563C>A; p.Pro188His

HGVS:

• NC_000023.11:g.154031301G>T
• NG_007107.3:g.110803C>A
• NM_001110792.2:c.563C>AMANE SELECT
• NM_001316337.2:c.248C>A
• NM_001369391.2:c.248C>A
• NM_001369392.2:c.248C>A
• NM_001369393.2:c.248C>A
• NM_001369394.2:c.248C>A
• NM_001386137.1:c.-128-15C>A
• NM_001386138.1:c.-128-15C>A
• NM_001386139.1:c.-128-15C>A
• NM_004992.4:c.527C>A
• NP_001104262.1:p.Pro188His
• NP_001303266.1:p.Pro83His
• NP_001356320.1:p.Pro83His
• NP_001356321.1:p.Pro83His
• NP_001356322.1:p.Pro83His
• NP_001356323.1:p.Pro83His
• NP_004983.1:p.Pro176His
• NP_004983.1:p.Pro176His
• LRG_764t1:c.563C>A
• LRG_764t2:c.527C>A
• LRG_764:g.110803C>A
• LRG_764p1:p.Pro188His
• LRG_764p2:p.Pro176His
• NC_000023.10:g.153296752G>T
• NG_007107.2:g.110827C>A
• NM_001110792.1:c.563C>A
• NM_004992.3:c.527C>A
• p.(Pro176His)

This HGVS expression did not pass validation

Protein change:

P176H

Links:

dbSNP: rs61749701

NCBI 1000 Genomes Browser:

rs61749701

Molecular consequence:

• NM_001386137.1:c.-128-15C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386138.1:c.-128-15C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386139.1:c.-128-15C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001110792.2:c.563C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.527C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1