ClinVar

NM_033542.4(SYS1):c.100C>T (p.Leu34=)

Genes:

SYS1:SYS1 golgi trafficking protein [Gene - OMIM - HGNC]
SYS1-DBNDD2:SYS1-DBNDD2 readthrough (NMD candidate) [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 45363631 (on Assembly GRCh38)
• Chr20: 43992271 (on Assembly GRCh37)

Preferred name:

NM_033542.4(SYS1):c.100C>T (p.Leu34=)

HGVS:

• NC_000020.11:g.45363631C>T
• NM_001099791.3:c.100C>T
• NM_001197129.2:c.100C>T
• NM_033542.4:c.100C>TMANE SELECT
• NP_001093261.1:p.Leu34=
• NP_001184058.1:p.Leu34=
• NP_291020.1:p.Leu34=
• NC_000020.10:g.43992271C>T
• NR_003189.2:n.250C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_003189.2:n.250C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001099791.3:c.100C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001197129.2:c.100C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033542.4:c.100C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1