ClinVar

NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031200 (on Assembly GRCh38)
• ChrX: 153296651 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu)

HGVS:

• NC_000023.11:g.154031200T>C
• NG_007107.3:g.110904A>G
• NM_001110792.2:c.664A>GMANE SELECT
• NM_001316337.2:c.349A>G
• NM_001369391.2:c.349A>G
• NM_001369392.2:c.349A>G
• NM_001369393.2:c.349A>G
• NM_001369394.2:c.349A>G
• NM_001386137.1:c.-42A>G
• NM_001386138.1:c.-42A>G
• NM_001386139.1:c.-42A>G
• NM_004992.4:c.628A>G
• NP_001104262.1:p.Lys222Glu
• NP_001303266.1:p.Lys117Glu
• NP_001356320.1:p.Lys117Glu
• NP_001356321.1:p.Lys117Glu
• NP_001356322.1:p.Lys117Glu
• NP_001356323.1:p.Lys117Glu
• NP_004983.1:p.Lys210Glu
• LRG_764t1:c.664A>G
• LRG_764t2:c.628A>G
• LRG_764:g.110904A>G
• LRG_764p1:p.Lys222Glu
• LRG_764p2:p.Lys210Glu
• NC_000023.10:g.153296651T>C
• NG_007107.2:g.110928A>G

This HGVS expression did not pass validation

Protein change:

K117E

Links:

dbSNP: rs782716294

NCBI 1000 Genomes Browser:

rs782716294

Molecular consequence:

• NM_001386137.1:c.-42A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-42A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-42A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.349A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.349A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.349A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.349A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.349A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.628A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2