ClinVar

NM_012216.4(MID2):c.1296C>T (p.Ser432=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 107917600 (on Assembly GRCh38)
• ChrX: 107160830 (on Assembly GRCh37)

Preferred name:

NM_012216.4(MID2):c.1296C>T (p.Ser432=)

HGVS:

• NC_000023.11:g.107917600C>T
• NG_011907.2:g.96747C>T
• NM_001382751.1:c.1236C>T
• NM_001382752.1:c.1236C>T
• NM_012216.4:c.1296C>TMANE SELECT
• NM_052817.3:c.1296C>T
• NP_001369680.1:p.Ser412=
• NP_001369681.1:p.Ser412=
• NP_036348.2:p.Ser432=
• NP_438112.2:p.Ser432=
• NC_000023.10:g.107160830C>T
• NM_012216.3:c.1296C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001382751.1:c.1236C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382752.1:c.1236C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012216.4:c.1296C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_052817.3:c.1296C>T - synonymous variant - [Sequence Ontology: SO:0001819]