ClinVar

NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031142 (on Assembly GRCh38)
• ChrX: 153296593 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)

Other names:

NM_001110792.2(MECP2):c.722C>T; p.Ser241Leu

HGVS:

• NC_000023.11:g.154031142G>A
• NG_007107.3:g.110962C>T
• NM_001110792.2:c.722C>TMANE SELECT
• NM_001316337.2:c.407C>T
• NM_001369391.2:c.407C>T
• NM_001369392.2:c.407C>T
• NM_001369393.2:c.407C>T
• NM_001369394.2:c.407C>T
• NM_001386137.1:c.17C>T
• NM_001386138.1:c.17C>T
• NM_001386139.1:c.17C>T
• NM_004992.4:c.686C>T
• NP_001104262.1:p.Ser241Leu
• NP_001303266.1:p.Ser136Leu
• NP_001356320.1:p.Ser136Leu
• NP_001356321.1:p.Ser136Leu
• NP_001356322.1:p.Ser136Leu
• NP_001356323.1:p.Ser136Leu
• NP_001373066.1:p.Ser6Leu
• NP_001373067.1:p.Ser6Leu
• NP_001373068.1:p.Ser6Leu
• NP_004983.1:p.Ser229Leu
• NP_004983.1:p.Ser229Leu
• LRG_764t1:c.722C>T
• LRG_764t2:c.686C>T
• AJ132917.1:c.686C>T
• LRG_764:g.110962C>T
• LRG_764p1:p.Ser241Leu
• LRG_764p2:p.Ser229Leu
• NC_000023.10:g.153296593G>A
• NG_007107.2:g.110986C>T
• NM_004992.3:c.686C>T
• P51608:p.Ser229Leu

This HGVS expression did not pass validation

Protein change:

S136L

Links:

UniProtKB: P51608#VAR_018200; dbSNP: rs61749739

NCBI 1000 Genomes Browser:

rs61749739

Molecular consequence:

• NM_001110792.2:c.722C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386137.1:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386138.1:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386139.1:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.686C>T - missense variant - [Sequence Ontology: SO:0001583]