ClinVar

NM_001378615.1(CC2D2A):c.4675-15G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15601222 (on Assembly GRCh38)
• Chr4: 15602845 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.4675-15G>A

HGVS:

• NC_000004.12:g.15601222G>A
• NG_013035.1:g.136357G>A
• NM_001080522.2:c.4675-15G>A
• NM_001378615.1:c.4675-15G>AMANE SELECT
• NM_001378617.1:c.4528-15G>A
• LRG_697t1:c.4675-15G>A
• LRG_697:g.136357G>A
• NC_000004.11:g.15602845G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs377573053

NCBI 1000 Genomes Browser:

rs377573053

Molecular consequence:

• NM_001080522.2:c.4675-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378615.1:c.4675-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378617.1:c.4528-15G>A - intron variant - [Sequence Ontology: SO:0001627]