ClinVar

NM_020680.4(SCYL1):c.306C>T (p.Tyr102=)

Gene:

SCYL1:SCY1 like pseudokinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 65525974 (on Assembly GRCh38)
• Chr11: 65293445 (on Assembly GRCh37)

Preferred name:

NM_020680.4(SCYL1):c.306C>T (p.Tyr102=)

HGVS:

• NC_000011.10:g.65525974C>T
• NG_047172.1:g.5910C>T
• NM_001048218.2:c.306C>T
• NM_001411022.1:c.306C>T
• NM_020680.4:c.306C>TMANE SELECT
• NP_001041683.1:p.Tyr102=
• NP_001397951.1:p.Tyr102=
• NP_065731.3:p.Tyr102=
• NC_000011.9:g.65293445C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001048218.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001411022.1:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020680.4:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1