ClinVar

NM_001110792.2(MECP2):c.531C>T (p.Pro177=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031333 (on Assembly GRCh38)
• ChrX: 153296784 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.531C>T (p.Pro177=)

HGVS:

• NC_000023.11:g.154031333G>A
• NG_007107.3:g.110771C>T
• NM_001110792.2:c.531C>TMANE SELECT
• NM_001316337.2:c.216C>T
• NM_001369391.2:c.216C>T
• NM_001369392.2:c.216C>T
• NM_001369393.2:c.216C>T
• NM_001369394.2:c.216C>T
• NM_001386137.1:c.-128-47C>T
• NM_001386138.1:c.-128-47C>T
• NM_001386139.1:c.-128-47C>T
• NM_004992.4:c.495C>T
• NP_001104262.1:p.Pro177=
• NP_001303266.1:p.Pro72=
• NP_001356320.1:p.Pro72=
• NP_001356321.1:p.Pro72=
• NP_001356322.1:p.Pro72=
• NP_001356323.1:p.Pro72=
• NP_004983.1:p.Pro165=
• NP_004983.1:p.Pro165=
• LRG_764t1:c.531C>T
• LRG_764t2:c.495C>T
• LRG_764:g.110771C>T
• LRG_764p1:p.Pro177=
• LRG_764p2:p.Pro165=
• NC_000023.10:g.153296784G>A
• NG_007107.2:g.110795C>T
• NM_004992.3:c.495C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376821032

NCBI 1000 Genomes Browser:

rs376821032

Molecular consequence:

• NM_001386137.1:c.-128-47C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386138.1:c.-128-47C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386139.1:c.-128-47C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001110792.2:c.531C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001316337.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369391.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369392.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369393.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369394.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004992.4:c.495C>T - synonymous variant - [Sequence Ontology: SO:0001819]