ClinVar

NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)

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: 18869108 (on Assembly GRCh38)
• Chr19: 18979917 (on Assembly GRCh37)

Preferred name:

NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)

HGVS:

• NC_000019.10:g.18869108C>T
• NG_012070.1:g.32037G>A
• NG_033056.1:g.32037G>A
• NM_001387438.1:c.608G>A
• NM_001387440.1:c.*1469G>A
• NM_001492.6:c.608G>AMANE SELECT
• NM_021267.5:c.*877G>AMANE SELECT
• NP_001374367.1:p.Trp203Ter
• NP_001483.3:p.Trp203Ter
• NC_000019.9:g.18979917C>T
• NM_001492.4:c.608G>A

This HGVS expression did not pass validation

Protein change:

W203*

Links:

dbSNP: rs1359321518

NCBI 1000 Genomes Browser:

rs1359321518

Molecular consequence:

• NM_001387440.1:c.*1469G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_021267.5:c.*877G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001387438.1:c.608G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001492.6:c.608G>A - nonsense - [Sequence Ontology: SO:0001587]