ClinVar

NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154030666 (on Assembly GRCh38)
• ChrX: 153296117 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)

Other names:

p.P388S:CCA>TCA; NM_001110792.1(MECP2):c.1198C>T(p.Pro400Ser); NM_001316337.1(MECP2):c.883C>T(p.Pro295Ser); NM_004992.3(MECP2):c.1162C>T(p.Pro388Ser); NM_001110792.2(MECP2):c.1198C>T; p.Pro400Ser

HGVS:

• NC_000023.11:g.154030666G>A
• NG_007107.3:g.111438C>T
• NM_001110792.2:c.1198C>TMANE SELECT
• NM_001316337.2:c.883C>T
• NM_001369391.2:c.883C>T
• NM_001369392.2:c.883C>T
• NM_001369393.2:c.883C>T
• NM_001369394.2:c.883C>T
• NM_001386137.1:c.493C>T
• NM_001386138.1:c.493C>T
• NM_001386139.1:c.493C>T
• NM_004992.4:c.1162C>T
• NP_001104262.1:p.Pro400Ser
• NP_001303266.1:p.Pro295Ser
• NP_001356320.1:p.Pro295Ser
• NP_001356321.1:p.Pro295Ser
• NP_001356322.1:p.Pro295Ser
• NP_001356323.1:p.Pro295Ser
• NP_001373066.1:p.Pro165Ser
• NP_001373067.1:p.Pro165Ser
• NP_001373068.1:p.Pro165Ser
• NP_004983.1:p.Pro388Ser
• NP_004983.1:p.Pro388Ser
• LRG_764t1:c.1198C>T
• LRG_764t2:c.1162C>T
• AJ132917.1:c.1162C>T
• LRG_764:g.111438C>T
• LRG_764p1:p.Pro400Ser
• LRG_764p2:p.Pro388Ser
• NC_000023.10:g.153296117G>A
• NG_007107.2:g.111462C>T
• NM_004992.3:c.1162C>T
• P51608:p.Pro388Ser

This HGVS expression did not pass validation

Protein change:

P165S

Links:

UniProtKB: P51608#VAR_018218; dbSNP: rs61753000

NCBI 1000 Genomes Browser:

rs61753000

Molecular consequence:

• NM_001110792.2:c.1198C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386137.1:c.493C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386138.1:c.493C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386139.1:c.493C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.1162C>T - missense variant - [Sequence Ontology: SO:0001583]