ClinVar

NM_001013836.2(MAD1L1):c.974G>C (p.Gly325Ala)

Gene:

MAD1L1:mitotic arrest deficient 1 like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.3

Genomic location:

• Chr7: 2213224 (on Assembly GRCh38)
• Chr7: 2252859 (on Assembly GRCh37)

Preferred name:

NM_001013836.2(MAD1L1):c.974G>C (p.Gly325Ala)

HGVS:

• NC_000007.14:g.2213224C>G
• NG_011518.1:g.24725G>C
• NG_011518.2:g.24721G>C
• NM_001013836.2:c.974G>CMANE SELECT
• NM_001013837.2:c.974G>C
• NM_001304523.2:c.974G>C
• NM_001304524.2:c.698G>C
• NM_003550.3:c.974G>C
• NP_001013858.1:p.Gly325Ala
• NP_001013859.1:p.Gly325Ala
• NP_001291452.1:p.Gly325Ala
• NP_001291453.1:p.Gly233Ala
• NP_003541.2:p.Gly325Ala
• NC_000007.13:g.2252859C>G
• NM_003550.2:c.974G>C

This HGVS expression did not pass validation

Protein change:

G233A

Molecular consequence:

• NM_001013836.2:c.974G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001013837.2:c.974G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304523.2:c.974G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304524.2:c.698G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003550.3:c.974G>C - missense variant - [Sequence Ontology: SO:0001583]