ClinVar

NM_012216.4(MID2):c.1662G>A (p.Leu554=)

Genes:

MID2:midline 2 [Gene - OMIM - HGNC]
LOC101928335:uncharacterized LOC101928335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 107926158 (on Assembly GRCh38)
• ChrX: 107169388 (on Assembly GRCh37)

Preferred name:

NM_012216.4(MID2):c.1662G>A (p.Leu554=)

HGVS:

• NC_000023.11:g.107926158G>A
• NG_011907.2:g.105305G>A
• NM_001382751.1:c.1602G>A
• NM_001382752.1:c.1512G>A
• NM_012216.4:c.1662G>AMANE SELECT
• NM_052817.3:c.1572G>A
• NP_001369680.1:p.Leu534=
• NP_001369681.1:p.Leu504=
• NP_036348.2:p.Leu554=
• NP_438112.2:p.Leu524=
• NC_000023.10:g.107169388G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs749983502

NCBI 1000 Genomes Browser:

rs749983502

Molecular consequence:

• NM_001382751.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382752.1:c.1512G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012216.4:c.1662G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052817.3:c.1572G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1