ClinVar

NM_001110792.2(MECP2):c.1405G>A (p.Glu469Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154030459 (on Assembly GRCh38)
• ChrX: 153295910 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.1405G>A (p.Glu469Lys)

HGVS:

• NC_000023.11:g.154030459C>T
• NG_007107.3:g.111645G>A
• NM_001110792.2:c.1405G>AMANE SELECT
• NM_001316337.2:c.1090G>A
• NM_001369391.2:c.1090G>A
• NM_001369392.2:c.1090G>A
• NM_001369393.2:c.1090G>A
• NM_001369394.2:c.1090G>A
• NM_001386137.1:c.700G>A
• NM_001386138.1:c.700G>A
• NM_001386139.1:c.700G>A
• NM_004992.4:c.1369G>A
• NP_001104262.1:p.Glu469Lys
• NP_001303266.1:p.Glu364Lys
• NP_001356320.1:p.Glu364Lys
• NP_001356321.1:p.Glu364Lys
• NP_001356322.1:p.Glu364Lys
• NP_001356323.1:p.Glu364Lys
• NP_001373066.1:p.Glu234Lys
• NP_001373067.1:p.Glu234Lys
• NP_001373068.1:p.Glu234Lys
• NP_004983.1:p.Glu457Lys
• LRG_764t1:c.1405G>A
• LRG_764t2:c.1369G>A
• LRG_764:g.111645G>A
• LRG_764p1:p.Glu469Lys
• LRG_764p2:p.Glu457Lys
• NC_000023.10:g.153295910C>T
• NM_004992.3:c.1369G>A

This HGVS expression did not pass validation

Protein change:

E234K

Molecular consequence:

• NM_001110792.2:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386137.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386138.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386139.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]