ClinVar

NM_001202457.3(ZNF816):c.1383T>C (p.Ser461=)

Genes:

ZNF816-ZNF321P:ZNF816-ZNF321P readthrough [Gene - HGNC]
ZNF816:zinc finger protein 816 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 52950392 (on Assembly GRCh38)
• Chr19: 53453645 (on Assembly GRCh37)

Preferred name:

NM_001202457.3(ZNF816):c.1383T>C (p.Ser461=)

HGVS:

• NC_000019.10:g.52950392A>G
• NM_001031665.4:c.1383T>C
• NM_001202456.3:c.1383T>C
• NM_001202457.3:c.1383T>CMANE SELECT
• NM_001202473.2:c.190+2359T>C
• NP_001026835.1:p.Ser461=
• NP_001189385.1:p.Ser461=
• NP_001189386.1:p.Ser461=
• NC_000019.9:g.53453645A>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001202473.2:c.190+2359T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001031665.4:c.1383T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001202456.3:c.1383T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001202457.3:c.1383T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1