ClinVar

NM_014509.5(SERHL2):c.553C>T (p.His185Tyr)

Gene:

SERHL2:serine hydrolase like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

• Chr22: 42560205 (on Assembly GRCh38)
• Chr22: 42956211 (on Assembly GRCh37)

Preferred name:

NM_014509.5(SERHL2):c.553C>T (p.His185Tyr)

HGVS:

• NC_000022.11:g.42560205C>T
• NM_001284334.2:c.361C>T
• NM_014509.5:c.553C>TMANE SELECT
• NP_001271263.1:p.His121Tyr
• NP_055324.2:p.His185Tyr
• NC_000022.10:g.42956211C>T
• NM_014509.3:c.553C>T
• NR_104300.2:n.634C>T
• NR_104301.2:n.618C>T

This HGVS expression did not pass validation

Protein change:

H121Y

Molecular consequence:

• NM_001284334.2:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014509.5:c.553C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104300.2:n.634C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104301.2:n.618C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]