ClinVar

NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154032376 (on Assembly GRCh38)
• ChrX: 153297827 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)

HGVS:

• NC_000023.11:g.154032376A>G
• NG_007107.3:g.109728T>C
• NM_001110792.2:c.244T>CMANE SELECT
• NM_001316337.2:c.-72T>C
• NM_001369391.2:c.-72T>C
• NM_001369392.2:c.-72T>C
• NM_001369393.2:c.-72T>C
• NM_001369394.2:c.-72T>C
• NM_001386137.1:c.-353T>C
• NM_001386138.1:c.-353T>C
• NM_001386139.1:c.-353T>C
• NM_004992.4:c.208T>C
• NP_001104262.1:p.Ser82Pro
• NP_004983.1:p.Ser70Pro
• NP_004983.1:p.Ser70Pro
• LRG_764t1:c.244T>C
• LRG_764t2:c.208T>C
• LRG_764:g.109728T>C
• LRG_764p1:p.Ser82Pro
• LRG_764p2:p.Ser70Pro
• NC_000023.10:g.153297827A>G
• NG_007107.2:g.109752T>C
• NM_004992.3:c.208T>C
• p.(Ser70Pro)

This HGVS expression did not pass validation

Protein change:

S70P

Links:

dbSNP: rs1557137884

NCBI 1000 Genomes Browser:

rs1557137884

Molecular consequence:

• NM_001316337.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369391.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369392.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369393.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001369394.2:c.-72T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386137.1:c.-353T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-353T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-353T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]