ClinVar

NM_000828.4(GRIA3):c.-2G=

Gene:

GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq25

Genomic location:

• ChrX: 123184533 - 123184534 (on Assembly GRCh38)
• ChrX: 122318386 - 122318387 (on Assembly GRCh37)

Preferred name:

NM_000828.4(GRIA3):c.-2G=

HGVS:

• NC_000023.11:g.123184534dup
• NG_009377.2:g.5292dup
• NG_009377.3:g.5258dup
• NM_000828.5:c.-2dup
• NM_001256743.2:c.-2dup
• NM_007325.5:c.-2dupMANE SELECT
• NM_007325.4:c.-2_-1insG

This HGVS expression did not pass validation

Note:

The G in position 5292 of NG_009377.2 is in a single base gap when aligned to NC_000023.10 in GRCh37 assembly. Thus what is asserted as an assertion relative to GRCh37 is no change on GRCh38 (NC_000023.11) and on the RefSeqGene.

Links:

dbSNP: rs58044961

NCBI 1000 Genomes Browser:

rs58044961

Molecular consequence:

• NM_000828.5:c.-2dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001256743.2:c.-2dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_007325.5:c.-2dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Observations:

18