ClinVar

NM_001195553.2(DCX):c.557G>A (p.Arg186His)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111401138 (on Assembly GRCh38)
• ChrX: 110644366 (on Assembly GRCh37)

Preferred name:

NM_001195553.2(DCX):c.557G>A (p.Arg186His)

HGVS:

• NC_000023.11:g.111401138C>T
• NG_011750.1:g.16041G>A
• NM_000555.3:c.800G>A
• NM_001195553.2:c.557G>AMANE SELECT
• NM_001369370.1:c.557G>A
• NM_001369371.1:c.557G>A
• NM_001369372.1:c.557G>A
• NM_001369373.1:c.557G>A
• NM_001369374.1:c.557G>A
• NM_178151.3:c.557G>A
• NM_178152.3:c.557G>A
• NM_178153.3:c.557G>A
• NP_000546.2:p.Arg267His
• NP_001182482.1:p.Arg186His
• NP_001356299.1:p.Arg186His
• NP_001356300.1:p.Arg186His
• NP_001356301.1:p.Arg186His
• NP_001356302.1:p.Arg186His
• NP_001356303.1:p.Arg186His
• NP_835364.1:p.Arg186His
• NP_835364.1:p.Arg186His
• NP_835365.1:p.Arg186His
• NP_835366.1:p.Arg186His
• NC_000023.10:g.110644366C>T
• NM_178151.2:c.557G>A
• NM_178153.1:c.557G>A
• NM_178153.2:c.557G>A

This HGVS expression did not pass validation

Protein change:

R186H

Links:

dbSNP: rs587783563

NCBI 1000 Genomes Browser:

rs587783563

Molecular consequence:

• NM_000555.3:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195553.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369370.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369371.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369372.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369373.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369374.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178151.3:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178152.3:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178153.3:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1