ClinVar

NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154032339 (on Assembly GRCh38)
• ChrX: 153297790 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg)

Other names:

NM_001110792.2(MECP2):c.281A>G; p.Lys94Arg

HGVS:

• NC_000023.11:g.154032339T>C
• NG_007107.3:g.109765A>G
• NM_001110792.2:c.281A>GMANE SELECT
• NM_001316337.2:c.-35A>G
• NM_001369391.2:c.-35A>G
• NM_001369392.2:c.-35A>G
• NM_001369393.2:c.-35A>G
• NM_001369394.2:c.-35A>G
• NM_001386137.1:c.-316A>G
• NM_001386138.1:c.-316A>G
• NM_001386139.1:c.-316A>G
• NM_004992.4:c.245A>G
• NP_001104262.1:p.Lys94Arg
• NP_004983.1:p.Lys82Arg
• NP_004983.1:p.Lys82Arg
• LRG_764t1:c.281A>G
• LRG_764t2:c.245A>G
• AJ132917.1:c.245A>G
• LRG_764:g.109765A>G
• LRG_764p1:p.Lys94Arg
• LRG_764p2:p.Lys82Arg
• NC_000023.10:g.153297790T>C
• NG_007107.2:g.109789A>G
• NM_004992.3:c.245A>G

This HGVS expression did not pass validation

Protein change:

K82R

Links:

dbSNP: rs61754444

NCBI 1000 Genomes Browser:

rs61754444

Molecular consequence:

• NM_001316337.2:c.-35A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369391.2:c.-35A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369392.2:c.-35A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369393.2:c.-35A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369394.2:c.-35A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386137.1:c.-316A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-316A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-316A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.281A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]