ClinVar

NM_001110792.2(MECP2):c.*14G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154030353 (on Assembly GRCh38)
• ChrX: 153295804 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.*14G>A

HGVS:

• NC_000023.11:g.154030353C>T
• NG_007107.3:g.111751G>A
• NM_001110792.2:c.*14G>AMANE SELECT
• NM_001316337.2:c.*14G>A
• NM_001369391.2:c.*14G>A
• NM_001369392.2:c.*14G>A
• NM_001369393.2:c.*14G>A
• NM_001369394.2:c.*14G>A
• NM_001386137.1:c.*14G>A
• NM_001386138.1:c.*14G>A
• NM_001386139.1:c.*14G>A
• NM_004992.4:c.*14G>A
• LRG_764t1:c.*14G>A
• LRG_764t2:c.*14G>A
• AJ132917.1:c.*14G>A
• LRG_764:g.111751G>A
• NC_000023.10:g.153295804C>T
• NG_007107.2:g.111775G>A
• NM_004992.3:c.*14G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs199963992

NCBI 1000 Genomes Browser:

rs199963992

Molecular consequence:

• NM_001110792.2:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001316337.2:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369391.2:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369392.2:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369393.2:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369394.2:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001386137.1:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001386138.1:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001386139.1:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004992.4:c.*14G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]