ClinVar

NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154031241 (on Assembly GRCh38)
• ChrX: 153296692 (on Assembly GRCh37)

Preferred name:

NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)

Other names:

NM_001110792.2(MECP2):c.623C>G; p.Thr208Ser

HGVS:

• NC_000023.11:g.154031241G>C
• NG_007107.3:g.110863C>G
• NM_001110792.2:c.623C>GMANE SELECT
• NM_001316337.2:c.308C>G
• NM_001369391.2:c.308C>G
• NM_001369392.2:c.308C>G
• NM_001369393.2:c.308C>G
• NM_001369394.2:c.308C>G
• NM_001386137.1:c.-83C>G
• NM_001386138.1:c.-83C>G
• NM_001386139.1:c.-83C>G
• NM_004992.4:c.587C>G
• NP_001104262.1:p.Thr208Ser
• NP_001303266.1:p.Thr103Ser
• NP_001356320.1:p.Thr103Ser
• NP_001356321.1:p.Thr103Ser
• NP_001356322.1:p.Thr103Ser
• NP_001356323.1:p.Thr103Ser
• NP_004983.1:p.Thr196Ser
• NP_004983.1:p.Thr196Ser
• LRG_764t1:c.623C>G
• LRG_764t2:c.587C>G
• AJ132917.1:c.587C>G
• LRG_764:g.110863C>G
• LRG_764p1:p.Thr208Ser
• LRG_764p2:p.Thr196Ser
• NC_000023.10:g.153296692G>C
• NG_007107.2:g.110887C>G
• NM_004992.3:c.587C>G
• P51608:p.Thr196Ser

This HGVS expression did not pass validation

Protein change:

T103S

Links:

UniProtKB: P51608#VAR_018194; dbSNP: rs61749713

NCBI 1000 Genomes Browser:

rs61749713

Molecular consequence:

• NM_001386137.1:c.-83C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386138.1:c.-83C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001386139.1:c.-83C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001110792.2:c.623C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316337.2:c.308C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369391.2:c.308C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369392.2:c.308C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369393.2:c.308C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369394.2:c.308C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004992.4:c.587C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1