ClinVar

NM_001083961.2(WDR62):c.216C>T (p.Asn72=)

Gene:

WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

• Chr19: 36058818 (on Assembly GRCh38)
• Chr19: 36549720 (on Assembly GRCh37)

Preferred name:

NM_001083961.2(WDR62):c.216C>T (p.Asn72=)

HGVS:

• NC_000019.10:g.36058818C>T
• NG_028101.1:g.8938C>T
• NM_001083961.2:c.216C>TMANE SELECT
• NM_173636.5:c.216C>T
• NP_001077430.1:p.Asn72=
• NP_775907.4:p.Asn72=
• NC_000019.9:g.36549720C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370507238

NCBI 1000 Genomes Browser:

rs370507238

Molecular consequence:

• NM_001083961.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173636.5:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2