ClinVar

NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154097637 (on Assembly GRCh38)
• ChrX: 153363094 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr)

HGVS:

• NC_000023.11:g.154097637C>G
• NG_007107.3:g.44467G>C
• NM_001110792.2:c.29G>CMANE SELECT
• NM_001316337.2:c.-579G>C
• NM_001369391.2:c.-874G>C
• NM_001369392.2:c.-523G>C
• NM_001369393.2:c.-399G>C
• NM_001386137.1:c.-804G>C
• NM_001386138.1:c.-692G>C
• NM_001386139.1:c.-568G>C
• NM_004992.4:c.-132G>C
• NP_001104262.1:p.Ser10Thr
• LRG_764t1:c.29G>C
• LRG_764t2:c.-132G>C
• LRG_764:g.44467G>C
• LRG_764p1:p.Ser10Thr
• NC_000023.10:g.153363094C>G
• NG_007107.2:g.44485G>C

This HGVS expression did not pass validation

Protein change:

S10T

Links:

dbSNP: rs2148770895

NCBI 1000 Genomes Browser:

rs2148770895

Molecular consequence:

• NM_001316337.2:c.-579G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369391.2:c.-874G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369392.2:c.-523G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369393.2:c.-399G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386137.1:c.-804G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-692G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-568G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004992.4:c.-132G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.29G>C - missense variant - [Sequence Ontology: SO:0001583]