ClinVar

NM_198551.4(MIA3):c.2728A>G (p.Thr910Ala)

Gene:

MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

• Chr1: 222629948 (on Assembly GRCh38)
• Chr1: 222803290 (on Assembly GRCh37)

Preferred name:

NM_198551.4(MIA3):c.2728A>G (p.Thr910Ala)

HGVS:

• NC_000001.11:g.222629948A>G
• NM_001324062.2:c.2728A>G
• NM_001324063.2:c.2728A>G
• NM_001324064.2:c.2236A>G
• NM_198551.4:c.2728A>GMANE SELECT
• NP_001310991.1:p.Thr910Ala
• NP_001310992.1:p.Thr910Ala
• NP_001310993.1:p.Thr746Ala
• NP_940953.2:p.Thr910Ala
• NC_000001.10:g.222803290A>G

This HGVS expression did not pass validation

Protein change:

T746A

Molecular consequence:

• NM_001324062.2:c.2728A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324063.2:c.2728A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324064.2:c.2236A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198551.4:c.2728A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1