ClinVar

NM_006164.5(NFE2L2):c.613G>C (p.Asp205His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177231990 (on Assembly GRCh38)
• Chr2: 178096718 (on Assembly GRCh37)

Preferred name:

NM_006164.5(NFE2L2):c.613G>C (p.Asp205His)

HGVS:

• NC_000002.12:g.177231990C>G
• NM_001145412.3:c.565G>C
• NM_001145413.3:c.544G>C
• NM_001313900.1:c.565G>C
• NM_001313901.1:c.565G>C
• NM_001313902.2:c.523G>C
• NM_001313903.2:c.394G>C
• NM_001313904.1:c.313G>C
• NM_006164.5:c.613G>CMANE SELECT
• NP_001138884.1:p.Asp189His
• NP_001138885.1:p.Asp182His
• NP_001300829.1:p.Asp189His
• NP_001300830.1:p.Asp189His
• NP_001300831.1:p.Asp175His
• NP_001300832.1:p.Asp132His
• NP_001300833.1:p.Asp105His
• NP_006155.2:p.Asp205His
• NC_000002.11:g.178096718C>G
• NM_006164.3:c.613G>C

This HGVS expression did not pass validation

Protein change:

D105H

Molecular consequence:

• NM_001145412.3:c.565G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145413.3:c.544G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313900.1:c.565G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313901.1:c.565G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313902.2:c.523G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313903.2:c.394G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313904.1:c.313G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006164.5:c.613G>C - missense variant - [Sequence Ontology: SO:0001583]