ClinVar

NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)

Genes:

LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xp21.3

Genomic location:

• ChrX: 25013659 - 25013660 (on Assembly GRCh38)
• ChrX: 25031776 - 25031777 (on Assembly GRCh37)

Preferred name:

NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)

HGVS:

• NC_000023.11:g.25013662CGC[13]
• NG_008281.1:g.7260GGC[13]
• NG_052655.1:g.233CGC[13]
• NM_139058.3:c.306GGC[13]MANE SELECT
• NP_620689.1:p.Ala113_Ala115dup
• NC_000023.10:g.25031776_25031777insGCCGCCGCC
• NC_000023.10:g.25031779CGC[13]
• NM_139058.2:c.327_335dup

This HGVS expression did not pass validation

Links:

dbSNP: rs387906492

NCBI 1000 Genomes Browser:

rs387906492

Molecular consequence:

• NM_139058.3:c.306GGC[13] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

1