ClinVar

NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

• Chr19: 36055092 (on Assembly GRCh38)
• Chr19: 36545994 (on Assembly GRCh37)

Preferred name:

NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)

HGVS:

• NC_000019.10:g.36055092T>A
• NG_028101.1:g.5212T>A
• NM_001083961.2:c.121T>AMANE SELECT
• NM_173636.5:c.121T>A
• NP_001077430.1:p.Cys41Ser
• NP_775907.4:p.Cys41Ser
• NC_000019.9:g.36545994T>A
• NC_000019.9:g.36545994T>A
• NM_001083961.1:c.121T>A

This HGVS expression did not pass validation

Protein change:

C41S

Links:

dbSNP: rs761479779

NCBI 1000 Genomes Browser:

rs761479779

Molecular consequence:

• NM_001083961.2:c.121T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_173636.5:c.121T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1