ClinVar

NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15557491 (on Assembly GRCh38)
• Chr4: 15559114 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)

Other names:

p.Met938Thr

HGVS:

• NC_000004.12:g.15557491T>C
• NG_013035.1:g.92626T>C
• NM_001080522.2:c.2813T>C
• NM_001378615.1:c.2813T>CMANE SELECT
• NM_001378617.1:c.2666T>C
• NP_001073991.2:p.Met938Thr
• NP_001365544.1:p.Met938Thr
• NP_001365546.1:p.Met889Thr
• LRG_697t1:c.2813T>C
• LRG_697:g.92626T>C
• LRG_697p1:p.Met938Thr
• NC_000004.11:g.15559114T>C

This HGVS expression did not pass validation

Protein change:

M889T

Links:

dbSNP: rs61740537

NCBI 1000 Genomes Browser:

rs61740537

Molecular consequence:

• NM_001080522.2:c.2813T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378615.1:c.2813T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378617.1:c.2666T>C - missense variant - [Sequence Ontology: SO:0001583]