ClinVar

NM_001110792.2(MECP2):c.204C>T (p.Pro68=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154032416 (on Assembly GRCh38)
• ChrX: 153297867 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.204C>T (p.Pro68=)

Other names:

NM_001110792.2(MECP2):c.204C>T; p.Pro68=

HGVS:

• NC_000023.11:g.154032416G>A
• NG_007107.3:g.109688C>T
• NM_001110792.2:c.204C>TMANE SELECT
• NM_001316337.2:c.-112C>T
• NM_001369391.2:c.-112C>T
• NM_001369392.2:c.-112C>T
• NM_001369393.2:c.-112C>T
• NM_001369394.2:c.-112C>T
• NM_001386137.1:c.-393C>T
• NM_001386138.1:c.-393C>T
• NM_001386139.1:c.-393C>T
• NM_004992.4:c.168C>T
• NP_001104262.1:p.Pro68=
• NP_004983.1:p.Pro56=
• NP_004983.1:p.Pro56=
• LRG_764t1:c.204C>T
• LRG_764t2:c.168C>T
• AJ132917.1:c.168C>T
• LRG_764:g.109688C>T
• LRG_764p1:p.Pro68=
• LRG_764p2:p.Pro56=
• NC_000023.10:g.153297867G>A
• NG_007107.2:g.109712C>T
• NM_004992.3:c.168C>T
• p.Pro56Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs61754435

NCBI 1000 Genomes Browser:

rs61754435

Molecular consequence:

• NM_001316337.2:c.-112C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369391.2:c.-112C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369392.2:c.-112C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369393.2:c.-112C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369394.2:c.-112C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386137.1:c.-393C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-393C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-393C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004992.4:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]