ClinVar

NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)

Gene:

CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15601414 (on Assembly GRCh38)
• Chr4: 15603037 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)

HGVS:

• NC_000004.12:g.15601414C>T
• NG_013035.1:g.136549C>T
• NM_001080522.2:c.4852C>T
• NM_001378615.1:c.4852C>TMANE SELECT
• NM_001378617.1:c.4705C>T
• NP_001073991.2:p.Arg1618Cys
• NP_001365544.1:p.Arg1618Cys
• NP_001365546.1:p.Arg1569Cys
• LRG_697t1:c.4852C>T
• LRG_697:g.136549C>T
• LRG_697p1:p.Arg1618Cys
• NC_000004.11:g.15603037C>T

This HGVS expression did not pass validation

Protein change:

R1569C

Links:

dbSNP: rs201219078

NCBI 1000 Genomes Browser:

rs201219078

Molecular consequence:

• NM_001080522.2:c.4852C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378615.1:c.4852C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378617.1:c.4705C>T - missense variant - [Sequence Ontology: SO:0001583]