ClinVar

NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)

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: 100920742 (on Assembly GRCh38)
• Chr8: 101932970 (on Assembly GRCh37)

Preferred name:

NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)

HGVS:

• NC_000008.11:g.100920742G>C
• NM_001135699.2:c.689C>G
• NM_001135700.2:c.689C>G
• NM_001135701.2:c.689C>G
• NM_001135702.2:c.689C>G
• NM_003406.4:c.689C>G
• NM_145690.3:c.689C>GMANE SELECT
• NP_001129171.1:p.Ser230Trp
• NP_001129171.1:p.Ser230Trp
• NP_001129172.1:p.Ser230Trp
• NP_001129173.1:p.Ser230Trp
• NP_001129174.1:p.Ser230Trp
• NP_003397.1:p.Ser230Trp
• NP_663723.1:p.Ser230Trp
• NC_000008.10:g.101932970G>C
• NM_001135699.1:c.689C>G
• NM_145690.2:c.689C>G

This HGVS expression did not pass validation

Protein change:

S230W; SER230TRP

Links:

OMIM: 601288.0001; dbSNP: rs1554612377

NCBI 1000 Genomes Browser:

rs1554612377

Molecular consequence:

• NM_001135699.2:c.689C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135700.2:c.689C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135701.2:c.689C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135702.2:c.689C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003406.4:c.689C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_145690.3:c.689C>G - missense variant - [Sequence Ontology: SO:0001583]