ClinVar

NM_145690.3(YWHAZ):c.379C>T (p.Arg127Cys)

Gene:

YWHAZ:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.3

Genomic location:

• Chr8: 100924955 (on Assembly GRCh38)
• Chr8: 101937183 (on Assembly GRCh37)

Preferred name:

NM_145690.3(YWHAZ):c.379C>T (p.Arg127Cys)

HGVS:

• NC_000008.11:g.100924955G>A
• NM_001135699.2:c.379C>T
• NM_001135700.2:c.379C>T
• NM_001135701.2:c.379C>T
• NM_001135702.2:c.379C>T
• NM_003406.4:c.379C>T
• NM_145690.3:c.379C>TMANE SELECT
• NP_001129171.1:p.Arg127Cys
• NP_001129172.1:p.Arg127Cys
• NP_001129173.1:p.Arg127Cys
• NP_001129174.1:p.Arg127Cys
• NP_003397.1:p.Arg127Cys
• NP_663723.1:p.Arg127Cys
• NC_000008.10:g.101937183G>A
• NM_001135699.1:c.379C>T

This HGVS expression did not pass validation

Protein change:

R127C

Molecular consequence:

• NM_001135699.2:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135700.2:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135701.2:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135702.2:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003406.4:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145690.3:c.379C>T - missense variant - [Sequence Ontology: SO:0001583]