ClinVar

NM_001282933.2(ZNF341):c.90C>A (p.Val30=)

Gene:

ZNF341:zinc finger protein 341 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.22

Genomic location:

• Chr20: 33740960 (on Assembly GRCh38)
• Chr20: 32328766 (on Assembly GRCh37)

Preferred name:

NM_001282933.2(ZNF341):c.90C>A (p.Val30=)

HGVS:

• NC_000020.11:g.33740960C>A
• NG_053072.1:g.14201C>A
• NM_001282933.2:c.90C>AMANE SELECT
• NM_001282935.2:c.17C>A
• NM_032819.5:c.90C>A
• NP_001269862.1:p.Val30=
• NP_001269864.1:p.Ser6Tyr
• NP_116208.3:p.Val30=
• NC_000020.10:g.32328766C>A
• NR_104259.2:n.116C>A

This HGVS expression did not pass validation

Protein change:

S6Y

Molecular consequence:

• NM_001282935.2:c.17C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104259.2:n.116C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001282933.2:c.90C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032819.5:c.90C>A - synonymous variant - [Sequence Ontology: SO:0001819]