ClinVar

NM_001013836.2(MAD1L1):c.2031A>G (p.Leu677=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.3

Genomic location:

• Chr7: 1816196 (on Assembly GRCh38)
• Chr7: 1855832 (on Assembly GRCh37)

Preferred name:

NM_001013836.2(MAD1L1):c.2031A>G (p.Leu677=)

HGVS:

• NC_000007.14:g.1816196T>C
• NG_011518.1:g.421752A>G
• NG_011518.2:g.421749A>G
• NM_001013836.2:c.2031A>GMANE SELECT
• NM_001013837.2:c.2031A>G
• NM_001304523.2:c.2031A>G
• NM_001304524.2:c.1755A>G
• NM_001304525.2:c.399A>G
• NM_003550.3:c.2031A>G
• NP_001013858.1:p.Leu677=
• NP_001013859.1:p.Leu677=
• NP_001291452.1:p.Leu677=
• NP_001291453.1:p.Leu585=
• NP_001291454.1:p.Leu133=
• NP_003541.2:p.Leu677=
• NC_000007.13:g.1855832T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001013836.2:c.2031A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001013837.2:c.2031A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304523.2:c.2031A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304524.2:c.1755A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304525.2:c.399A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003550.3:c.2031A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1