ClinVar

NM_004690.4(LATS1):c.375A>T (p.Lys125Asn)

Gene:

LATS1:large tumor suppressor kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.1

Genomic location:

• Chr6: 149695195 (on Assembly GRCh38)
• Chr6: 150016331 (on Assembly GRCh37)

Preferred name:

NM_004690.4(LATS1):c.375A>T (p.Lys125Asn)

HGVS:

• NC_000006.12:g.149695195T>A
• NM_001270519.2:c.375A>T
• NM_001350339.2:c.60A>T
• NM_001350340.2:c.60A>T
• NM_001350392.2:c.-345+6584A>T
• NM_004690.4:c.375A>TMANE SELECT
• NP_001257448.1:p.Lys125Asn
• NP_001337268.1:p.Lys20Asn
• NP_001337269.1:p.Lys20Asn
• NP_004681.1:p.Lys125Asn
• NC_000006.11:g.150016331T>A
• NR_073033.2:n.829A>T

This HGVS expression did not pass validation

Protein change:

K125N

Molecular consequence:

• NM_001350392.2:c.-345+6584A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270519.2:c.375A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350339.2:c.60A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350340.2:c.60A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004690.4:c.375A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073033.2:n.829A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]