ClinVar

NM_006164.5(NFE2L2):c.440T>C (p.Ile147Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177232546 (on Assembly GRCh38)
• Chr2: 178097274 (on Assembly GRCh37)

Preferred name:

NM_006164.5(NFE2L2):c.440T>C (p.Ile147Thr)

HGVS:

• NC_000002.12:g.177232546A>G
• NM_001145412.3:c.392T>C
• NM_001145413.3:c.371T>C
• NM_001313900.1:c.392T>C
• NM_001313901.1:c.392T>C
• NM_001313902.2:c.350T>C
• NM_001313903.2:c.221T>C
• NM_001313904.1:c.140T>C
• NM_006164.5:c.440T>CMANE SELECT
• NP_001138884.1:p.Ile131Thr
• NP_001138885.1:p.Ile124Thr
• NP_001300829.1:p.Ile131Thr
• NP_001300830.1:p.Ile131Thr
• NP_001300831.1:p.Ile117Thr
• NP_001300832.1:p.Ile74Thr
• NP_001300833.1:p.Ile47Thr
• NP_006155.2:p.Ile147Thr
• NC_000002.11:g.178097274A>G

This HGVS expression did not pass validation

Protein change:

I117T

Molecular consequence:

• NM_001145412.3:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145413.3:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313900.1:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313901.1:c.392T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313902.2:c.350T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313903.2:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313904.1:c.140T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006164.5:c.440T>C - missense variant - [Sequence Ontology: SO:0001583]