ClinVar

NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser)

Gene:

CDC45:cell division cycle 45 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19514965 (on Assembly GRCh38)
• Chr22: 19502488 (on Assembly GRCh37)

Preferred name:

NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser)

HGVS:

• NC_000022.11:g.19514965G>A
• NG_052958.1:g.40140G>A
• NM_001178010.2:c.1453G>A
• NM_001178011.2:c.1219G>A
• NM_001369291.1:c.1321G>A
• NM_003504.5:c.1357G>AMANE SELECT
• NP_001171481.1:p.Gly485Ser
• NP_001171482.1:p.Gly407Ser
• NP_001356220.1:p.Gly441Ser
• NP_003495.1:p.Gly453Ser
• NC_000022.10:g.19502488G>A

This HGVS expression did not pass validation

Protein change:

G407S

Links:

dbSNP: rs148062883

NCBI 1000 Genomes Browser:

rs148062883

Molecular consequence:

• NM_001178010.2:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178011.2:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369291.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003504.5:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]