ClinVar

NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr)

Gene:

LZTFL1:leucine zipper transcription factor like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 45828495 (on Assembly GRCh38)
• Chr3: 45869987 (on Assembly GRCh37)

Preferred name:

NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr)

HGVS:

• NC_000003.12:g.45828495C>T
• NG_033917.1:g.92230G>A
• NM_001276378.2:c.670G>A
• NM_001276379.2:c.709G>A
• NM_001386451.1:c.670G>A
• NM_001386452.1:c.721G>A
• NM_020347.4:c.721G>AMANE SELECT
• NP_001263307.1:p.Ala224Thr
• NP_001263308.1:p.Ala237Thr
• NP_001373380.1:p.Ala224Thr
• NP_001373381.1:p.Ala241Thr
• NP_065080.1:p.Ala241Thr
• NC_000003.11:g.45869987C>T
• NM_020347.2:c.721G>A
• NM_020347.3:c.721G>A
• NR_075080.2:n.724G>A

This HGVS expression did not pass validation

Protein change:

A224T

Links:

dbSNP: rs73064420

NCBI 1000 Genomes Browser:

rs73064420

Molecular consequence:

• NM_001276378.2:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276379.2:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386451.1:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386452.1:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020347.4:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_075080.2:n.724G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]