ClinVar

NM_021267.5(CERS1):c.*773G>A

Genes:

CERS1:ceramide synthase 1 [Gene - OMIM - HGNC]
GDF1:growth differentiation factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 18869212 (on Assembly GRCh38)
• Chr19: 18980021 (on Assembly GRCh37)

Preferred name:

NM_021267.5(CERS1):c.*773G>A

HGVS:

• NC_000019.10:g.18869212C>T
• NG_012070.1:g.31933G>A
• NG_033056.1:g.31933G>A
• NM_001387438.1:c.504G>A
• NM_001387440.1:c.*1365G>A
• NM_001492.6:c.504G>AMANE SELECT
• NM_021267.5:c.*773G>AMANE SELECT
• NP_001374367.1:p.Ala168=
• NP_001483.3:p.Ala168=
• NC_000019.9:g.18980021C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1415775845

NCBI 1000 Genomes Browser:

rs1415775845

Molecular consequence:

• NM_001387440.1:c.*1365G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_021267.5:c.*773G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001387438.1:c.504G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001492.6:c.504G>A - synonymous variant - [Sequence Ontology: SO:0001819]