ClinVar

NM_001318891.2(ZNF184):c.113C>A (p.Thr38Asn)

Gene:

ZNF184:zinc finger protein 184 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.1

Genomic location:

• Chr6: 27457372 (on Assembly GRCh38)
• Chr6: 27425151 (on Assembly GRCh37)

Preferred name:

NM_001318891.2(ZNF184):c.113C>A (p.Thr38Asn)

HGVS:

• NC_000006.12:g.27457372G>T
• NG_052614.1:g.20747C>A
• NM_001318891.2:c.113C>AMANE SELECT
• NM_001318892.2:c.113C>A
• NM_001318893.2:c.-145C>A
• NM_001347832.2:c.-145C>A
• NM_007149.3:c.113C>A
• NP_001305820.1:p.Thr38Asn
• NP_001305821.1:p.Thr38Asn
• NP_009080.2:p.Thr38Asn
• NP_009080.2:p.Thr38Asn
• NC_000006.11:g.27425151G>T
• NM_007149.2:c.113C>A
• NR_144687.2:n.385C>A
• NR_144688.2:n.385C>A

This HGVS expression did not pass validation

Protein change:

T38N

Links:

dbSNP: rs193921063

NCBI 1000 Genomes Browser:

rs193921063

Molecular consequence:

• NM_001318893.2:c.-145C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001347832.2:c.-145C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001318891.2:c.113C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318892.2:c.113C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007149.3:c.113C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_144687.2:n.385C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144688.2:n.385C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]