ClinVar

NM_001201479.2(CORO7-PAM16):c.578G>A (p.Arg193Gln)

Genes:

CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
CORO7:coronin 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 4395326 (on Assembly GRCh38)
• Chr16: 4445327 (on Assembly GRCh37)

Preferred name:

NM_001201479.2(CORO7-PAM16):c.578G>A (p.Arg193Gln)

HGVS:

• NC_000016.10:g.4395326C>T
• NG_052966.1:g.26636G>A
• NM_001201472.2:c.524G>A
• NM_001201473.2:c.323G>A
• NM_001201479.2:c.578G>A
• NM_001351729.2:c.-83G>A
• NM_024535.5:c.578G>AMANE SELECT
• NP_001188401.1:p.Arg175Gln
• NP_001188402.1:p.Arg108Gln
• NP_001188408.1:p.Arg193Gln
• NP_078811.3:p.Arg193Gln
• NC_000016.9:g.4445327C>T

This HGVS expression did not pass validation

Protein change:

R108Q

Links:

dbSNP: rs3747579

NCBI 1000 Genomes Browser:

rs3747579

Molecular consequence:

• NM_001351729.2:c.-83G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001201472.2:c.524G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201473.2:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201479.2:c.578G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024535.5:c.578G>A - missense variant - [Sequence Ontology: SO:0001583]