ClinVar

NM_000381.4(MID1):c.759C>A (p.Val253=)

Gene:

MID1:midline 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 10495689 (on Assembly GRCh38)
• ChrX: 10463729 (on Assembly GRCh37)

Preferred name:

NM_000381.4(MID1):c.759C>A (p.Val253=)

HGVS:

• NC_000023.11:g.10495689G>T
• NG_008197.2:g.343002C>A
• NM_000381.4:c.759C>AMANE SELECT
• NM_001098624.2:c.759C>A
• NM_001193277.1:c.759C>A
• NM_001193278.1:c.912C>A
• NM_001193279.1:c.759C>A
• NM_001193280.1:c.645C>A
• NM_001347733.2:c.759C>A
• NM_033289.2:c.645C>A
• NM_033290.4:c.759C>A
• NP_000372.1:p.Val253=
• NP_001092094.1:p.Val253=
• NP_001180206.1:p.Val253=
• NP_001180207.1:p.Val304=
• NP_001180208.1:p.Val253=
• NP_001180209.1:p.Val215=
• NP_001334662.1:p.Val253=
• NP_150631.1:p.Val215=
• NP_150632.1:p.Val253=
• NC_000023.10:g.10463729G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000381.4:c.759C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001098624.2:c.759C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193277.1:c.759C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193278.1:c.912C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193279.1:c.759C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193280.1:c.645C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347733.2:c.759C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033289.2:c.645C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033290.4:c.759C>A - synonymous variant - [Sequence Ontology: SO:0001819]