ClinVar

NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031373 (on Assembly GRCh38)
• ChrX: 153296824 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu)

Other names:

NM_004992.4:c.455C>T

HGVS:

• NC_000023.11:g.154031373G>A
• NG_007107.3:g.110731C>T
• NM_001110792.2:c.491C>TMANE SELECT
• NM_001316337.2:c.176C>T
• NM_001369391.2:c.176C>T
• NM_001369392.2:c.176C>T
• NM_001369393.2:c.176C>T
• NM_001369394.2:c.176C>T
• NM_001386137.1:c.-129+23C>T
• NM_001386138.1:c.-129+23C>T
• NM_001386139.1:c.-129+23C>T
• NM_004992.3:c.455C>T
• NM_004992.4:c.455C>T
• NP_001104262.1:p.Pro164Leu
• NP_001303266.1:p.Pro59Leu
• NP_001356320.1:p.Pro59Leu
• NP_001356321.1:p.Pro59Leu
• NP_001356322.1:p.Pro59Leu
• NP_001356323.1:p.Pro59Leu
• NP_004983.1:p.Pro152Leu
• LRG_764t1:c.491C>T
• LRG_764t2:c.455C>T
• LRG_764:g.110731C>T
• LRG_764p1:p.Pro164Leu
• LRG_764p2:p.Pro152Leu
• NC_000023.10:g.153296824G>A

This HGVS expression did not pass validation

Protein change:

P152L

Molecular consequence:

• NM_001386137.1:c.-129+23C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386138.1:c.-129+23C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386139.1:c.-129+23C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001110792.2:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.455C>T - missense variant - [Sequence Ontology: SO:0001583]