ClinVar

NM_001102597.3(CEACAM20):c.1349G>A (p.Gly450Asp)

Gene:

CEACAM20:CEA cell adhesion molecule 20 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.31

Genomic location:

• Chr19: 44513250 (on Assembly GRCh38)
• Chr19: 45017309 (on Assembly GRCh37)

Preferred name:

NM_001102597.3(CEACAM20):c.1349G>A (p.Gly450Asp)

HGVS:

• NC_000019.10:g.44513250C>T
• NM_001102597.3:c.1349G>AMANE SELECT
• NM_001102598.3:c.1070G>A
• NM_001102599.3:c.1070G>A
• NM_001102600.3:c.1349G>A
• NP_001096067.2:p.Gly450Asp
• NP_001096068.2:p.Gly357Asp
• NP_001096069.2:p.Gly357Asp
• NP_001096070.2:p.Gly450Asp
• NC_000019.9:g.45017309C>T
• NM_001102597.1:c.1349G>A

This HGVS expression did not pass validation

Protein change:

G357D

Molecular consequence:

• NM_001102597.3:c.1349G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102598.3:c.1070G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102599.3:c.1070G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001102600.3:c.1349G>A - missense variant - [Sequence Ontology: SO:0001583]