ClinVar

NM_006164.5(NFE2L2):c.160C>T (p.Leu54Phe)

Gene:

NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177234157 (on Assembly GRCh38)
• Chr2: 178098885 (on Assembly GRCh37)

Preferred name:

NM_006164.5(NFE2L2):c.160C>T (p.Leu54Phe)

HGVS:

• NC_000002.12:g.177234157G>A
• NM_001145412.3:c.112C>T
• NM_001145413.3:c.112C>T
• NM_001313900.1:c.112C>T
• NM_001313901.1:c.112C>T
• NM_001313902.2:c.160C>T
• NM_001313903.2:c.93+67C>T
• NM_001313904.1:c.-70C>T
• NM_006164.3:c.160C>T
• NM_006164.5:c.160C>TMANE SELECT
• NP_001138884.1:p.Leu38Phe
• NP_001138885.1:p.Leu38Phe
• NP_001300829.1:p.Leu38Phe
• NP_001300830.1:p.Leu38Phe
• NP_001300831.1:p.Leu54Phe
• NP_006155.2:p.Leu54Phe
• NC_000002.11:g.178098885G>A

This HGVS expression did not pass validation

Protein change:

L38F

Molecular consequence:

• NM_001313904.1:c.-70C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001313903.2:c.93+67C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145412.3:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145413.3:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313900.1:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313901.1:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313902.2:c.160C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006164.5:c.160C>T - missense variant - [Sequence Ontology: SO:0001583]