ClinVar

NM_000381.4(MID1):c.1845C>T (p.Ile615=)

Genes:

LOC126863207:BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 [Gene]
MID1:midline 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 10449527 (on Assembly GRCh38)
• ChrX: 10417567 (on Assembly GRCh37)

Preferred name:

NM_000381.4(MID1):c.1845C>T (p.Ile615=)

HGVS:

• NC_000023.11:g.10449527G>A
• NG_008197.2:g.389164C>T
• NG_087703.1:g.689G>A
• NM_000381.4:c.1845C>TMANE SELECT
• NM_001098624.2:c.1845C>T
• NM_001193277.1:c.1845C>T
• NM_001347733.2:c.1845C>T
• NM_033289.2:c.1731C>T
• NM_033290.4:c.1845C>T
• NP_000372.1:p.Ile615=
• NP_001092094.1:p.Ile615=
• NP_001180206.1:p.Ile615=
• NP_001334662.1:p.Ile615=
• NP_150631.1:p.Ile577=
• NP_150632.1:p.Ile615=
• NC_000023.10:g.10417567G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000381.4:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001098624.2:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193277.1:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347733.2:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033289.2:c.1731C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033290.4:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]