Protein level identifier (NP_940980):
Gly2019Ser
cDNA level identifier (NM_198578):
c.6055G>A
Gene level identifier:
g.143657G>A
Archive identifier/Other designation:
G2019S
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Phosphorylation activity:
Positive functional evidence:
16269541; 16437584; 17385669; 17447891; 17584768; 18182054; 18258746; 18367605; 19076219; 19302196; 19397894; 19545277; 19576176; 19625511; 19741132; 19769964; 19890007; 20067578; 20074637; 20090955; 20130188; 20205471; 20382224; 20626563; 20642453; 20659021; 20659558; 20713600; 20720502; 20850369; 20881132; 21057624; 21115957; 21168496; 21248115; 21362567; 21390248; 21454543; 21494637; 21658387; 21720016; 21768216; 21806997; 21828077; 21850687; 21857923; 21961647; 21972245; 22108336; 22110348; 22171073; 22204929; 22228096; 22303461; 22315971; 22363216; 22407749; 22423108; 22539006; 22639965; 22652643; 22736029; 22773119; 22914360; 22998870; 23065705; 23075850; 23231918; 23241358; 23241745; 23318930; 23379419; 23396536; 23455607; 23472874; 23529190; 23646112; 23813973; 24000005; 24148854; 24167564; 24192129; 24282027; 24360742; 24407237; 24459295; 24633735; 24652679; 24725412; 24754922; 24788225; 24830390; 24874075; 24916379; 25000966; 25017139; 25107341; 25174649; 25301747; 25309331; 25355420; 25416817; 25446991; 25483009; 25731749; 25836420; 25926623; 26014385; 26078453; 26123245; 26123485; 26159606; 26216903; 26251043; 26253449; 26253900; 26268594; 26269629; 26282470; 26365310; 26375402; 26384650; 26519280; 26546614; 26651604; 26744328; 26744332; 26758690; 26808467; 26824392; 26865512; 26894577; 26931464; 27081659; 27273569; 27383589; 27413152; 27423549; 27474410; 27640816; 27653520; 27658356; 27812199; 27832104; 27863501; 27914807; 27939437; 28096185; 28186666; 28292328; 28321439; 28483388; 28487191;
Number of all included cases:
33 homozygous, 523 heterozygous (556 in total).