ClinVar

NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15580065 (on Assembly GRCh38)
• Chr4: 15581688 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)

Other names:

p.Val1290Ala

HGVS:

• NC_000004.12:g.15580065T>C
• NG_013035.1:g.115200T>C
• NM_001080522.2:c.3869T>C
• NM_001378615.1:c.3869T>CMANE SELECT
• NM_001378617.1:c.3722T>C
• NP_001073991.2:p.Val1290Ala
• NP_001365544.1:p.Val1290Ala
• NP_001365546.1:p.Val1241Ala
• LRG_697t1:c.3869T>C
• LRG_697:g.115200T>C
• LRG_697p1:p.Val1290Ala
• NC_000004.11:g.15581688T>C

This HGVS expression did not pass validation

Protein change:

V1241A

Links:

dbSNP: rs200427832

NCBI 1000 Genomes Browser:

rs200427832

Molecular consequence:

• NM_001080522.2:c.3869T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378615.1:c.3869T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378617.1:c.3722T>C - missense variant - [Sequence Ontology: SO:0001583]