ClinVar

NM_001492.6(GDF1):c.412C>A (p.Pro138Thr)

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: 18869304 (on Assembly GRCh38)
• Chr19: 18980113 (on Assembly GRCh37)

Preferred name:

NM_001492.6(GDF1):c.412C>A (p.Pro138Thr)

HGVS:

• NC_000019.10:g.18869304G>T
• NG_012070.1:g.31841C>A
• NG_033056.1:g.31841C>A
• NM_001387438.1:c.412C>A
• NM_001387440.1:c.*1273C>A
• NM_001492.6:c.412C>AMANE SELECT
• NM_021267.5:c.*681C>AMANE SELECT
• NP_001374367.1:p.Pro138Thr
• NP_001483.3:p.Pro138Thr
• NC_000019.9:g.18980113G>T
• NM_001492.4:c.412C>A

This HGVS expression did not pass validation

Protein change:

P138T

Links:

dbSNP: rs765449212

NCBI 1000 Genomes Browser:

rs765449212

Molecular consequence:

• NM_001387440.1:c.*1273C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_021267.5:c.*681C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001387438.1:c.412C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001492.6:c.412C>A - missense variant - [Sequence Ontology: SO:0001583]