ClinVar

NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15502879 (on Assembly GRCh38)
• Chr4: 15504502 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)

HGVS:

• NC_000004.12:g.15502879C>T
• NG_013035.1:g.38014C>T
• NM_001080522.2:c.394C>T
• NM_001378615.1:c.394C>TMANE SELECT
• NM_001378617.1:c.247C>T
• NP_001073991.2:p.Arg132Ter
• NP_001365544.1:p.Arg132Ter
• NP_001365546.1:p.Arg83Ter
• LRG_697t1:c.394C>T
• LRG_697:g.38014C>T
• LRG_697p1:p.Arg132Ter
• NC_000004.11:g.15504502C>T

This HGVS expression did not pass validation

Protein change:

R132*

Links:

dbSNP: rs377177061

NCBI 1000 Genomes Browser:

rs377177061

Molecular consequence:

• NM_001080522.2:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001378615.1:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001378617.1:c.247C>T - nonsense - [Sequence Ontology: SO:0001587]