ClinVar

NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154030690 (on Assembly GRCh38)
• ChrX: 153296141 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)

Other names:

p.V380M:GTG>ATG; NM_001110792.2(MECP2):c.1174G>A; p.Val392Met

HGVS:

• NC_000023.11:g.154030690C>T
• NG_007107.3:g.111414G>A
• NM_001110792.2:c.1174G>AMANE SELECT
• NM_001316337.2:c.859G>A
• NM_001369391.2:c.859G>A
• NM_001369392.2:c.859G>A
• NM_001369393.2:c.859G>A
• NM_001369394.2:c.859G>A
• NM_001386137.1:c.469G>A
• NM_001386138.1:c.469G>A
• NM_001386139.1:c.469G>A
• NM_004992.4:c.1138G>A
• NP_001104262.1:p.Val392Met
• NP_001303266.1:p.Val287Met
• NP_001356320.1:p.Val287Met
• NP_001356321.1:p.Val287Met
• NP_001356322.1:p.Val287Met
• NP_001356323.1:p.Val287Met
• NP_001373066.1:p.Val157Met
• NP_001373067.1:p.Val157Met
• NP_001373068.1:p.Val157Met
• NP_004983.1:p.Val380Met
• NP_004983.1:p.Val380Met
• LRG_764t1:c.1174G>A
• LRG_764t2:c.1138G>A
• AJ132917.1:c.1138G>A
• LRG_764:g.111414G>A
• LRG_764p1:p.Val392Met
• LRG_764p2:p.Val380Met
• NC_000023.10:g.153296141C>T
• NG_007107.2:g.111438G>A
• NM_004992.3:c.1138G>A

This HGVS expression did not pass validation

Protein change:

V157M

Links:

dbSNP: rs267608572

NCBI 1000 Genomes Browser:

rs267608572

Molecular consequence:

• NM_001110792.2:c.1174G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386137.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386138.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386139.1:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.1138G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2