ClinVar

NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154032333 (on Assembly GRCh38)
• ChrX: 153297784 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln)

HGVS:

• NC_000023.11:g.154032333C>T
• NG_007107.3:g.109771G>A
• NM_001110792.2:c.287G>AMANE SELECT
• NM_001316337.2:c.-29G>A
• NM_001369391.2:c.-29G>A
• NM_001369392.2:c.-29G>A
• NM_001369393.2:c.-29G>A
• NM_001369394.2:c.-29G>A
• NM_001386137.1:c.-310G>A
• NM_001386138.1:c.-310G>A
• NM_001386139.1:c.-310G>A
• NM_004992.4:c.251G>A
• NP_001104262.1:p.Arg96Gln
• NP_004983.1:p.Arg84Gln
• LRG_764t1:c.287G>A
• LRG_764t2:c.251G>A
• LRG_764:g.109771G>A
• LRG_764p1:p.Arg96Gln
• LRG_764p2:p.Arg84Gln
• NC_000023.10:g.153297784C>T
• NG_007107.2:g.109795G>A

This HGVS expression did not pass validation

Protein change:

R84Q

Links:

dbSNP: rs797044707

NCBI 1000 Genomes Browser:

rs797044707

Molecular consequence:

• NM_001316337.2:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369391.2:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369392.2:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369393.2:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369394.2:c.-29G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386137.1:c.-310G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-310G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-310G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.287G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3