ClinVar

NM_001013836.2(MAD1L1):c.323C>T (p.Thr108Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.3

Genomic location:

• Chr7: 2222723 (on Assembly GRCh38)
• Chr7: 2262358 (on Assembly GRCh37)

Preferred name:

NM_001013836.2(MAD1L1):c.323C>T (p.Thr108Met)

HGVS:

• NC_000007.14:g.2222723G>A
• NG_011518.1:g.15226C>T
• NG_011518.2:g.15222C>T
• NM_001013836.2:c.323C>TMANE SELECT
• NM_001013837.2:c.323C>T
• NM_001304523.2:c.323C>T
• NM_001304524.2:c.-93C>T
• NM_003550.3:c.323C>T
• NP_001013858.1:p.Thr108Met
• NP_001013859.1:p.Thr108Met
• NP_001291452.1:p.Thr108Met
• NP_003541.2:p.Thr108Met
• NC_000007.13:g.2262358G>A

This HGVS expression did not pass validation

Protein change:

T108M

Molecular consequence:

• NM_001304524.2:c.-93C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001013836.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001013837.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304523.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003550.3:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1