ClinVar

NM_000294.3(PHKG2):c.*3879A>G

Genes:

LOC126862330:MED14-independent group 3 enhancer GRCh37_chr16:30771308-30772507 [Gene]
CFAP119:cilia and flagella associated protein 119 [Gene - OMIM - HGNC]
PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 30760976 (on Assembly GRCh38)
• Chr16: 30772297 (on Assembly GRCh37)

Preferred name:

NM_000294.3(PHKG2):c.*3879A>G

HGVS:

• NC_000016.10:g.30760976A>G
• NG_016616.2:g.17678A>G
• NG_086828.1:g.1090A>G
• NG_086828.2:g.1090A>G
• NM_000294.3:c.*3879A>GMANE SELECT
• NM_001014979.3:c.236+222T>CMANE SELECT
• NM_001172432.2:c.*816A>G
• NM_001195620.2:c.236+222T>C
• NC_000016.9:g.30772297A>G
• NM_000294.2:c.*3872A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs886051921

NCBI 1000 Genomes Browser:

rs886051921

Molecular consequence:

• NM_000294.3:c.*3879A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001172432.2:c.*816A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001014979.3:c.236+222T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195620.2:c.236+222T>C - intron variant - [Sequence Ontology: SO:0001627]