ClinVar

NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154032252 (on Assembly GRCh38)
• ChrX: 153297703 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)

HGVS:

• NC_000023.11:g.154032252C>T
• NG_007107.3:g.109852G>A
• NM_001110792.2:c.368G>AMANE SELECT
• NM_001316337.2:c.53G>A
• NM_001369391.2:c.53G>A
• NM_001369392.2:c.53G>A
• NM_001369393.2:c.53G>A
• NM_001369394.2:c.53G>A
• NM_001386137.1:c.-229G>A
• NM_001386138.1:c.-229G>A
• NM_001386139.1:c.-229G>A
• NM_004992.4:c.332G>A
• NP_001104262.1:p.Arg123Lys
• NP_001303266.1:p.Arg18Lys
• NP_001356320.1:p.Arg18Lys
• NP_001356321.1:p.Arg18Lys
• NP_001356322.1:p.Arg18Lys
• NP_001356323.1:p.Arg18Lys
• NP_004983.1:p.Arg111Lys
• NP_004983.1:p.Arg111Lys
• LRG_764t1:c.368G>A
• LRG_764t2:c.332G>A
• LRG_764:g.109852G>A
• LRG_764p1:p.Arg123Lys
• LRG_764p2:p.Arg111Lys
• NC_000023.10:g.153297703C>T
• NG_007107.2:g.109876G>A
• NM_004992.3:c.332G>A

This HGVS expression did not pass validation

Protein change:

R111K

Links:

dbSNP: rs1057518718

NCBI 1000 Genomes Browser:

rs1057518718

Molecular consequence:

• NM_001386137.1:c.-229G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-229G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-229G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.53G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]