ClinVar

NM_017667.4(VPS50):c.2098G>A (p.Glu700Lys)

Gene:

VPS50:VPS50 subunit of EARP/GARPII complex [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 93341466 (on Assembly GRCh38)
• Chr7: 92970778 (on Assembly GRCh37)

Preferred name:

NM_017667.4(VPS50):c.2098G>A (p.Glu700Lys)

HGVS:

• NC_000007.14:g.93341466G>A
• NM_001257998.2:c.2008G>A
• NM_017667.4:c.2098G>AMANE SELECT
• NP_001244927.1:p.Glu670Lys
• NP_060137.2:p.Glu700Lys
• NC_000007.13:g.92970778G>A

This HGVS expression did not pass validation

Protein change:

E670K

Molecular consequence:

• NM_001257998.2:c.2008G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017667.4:c.2098G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1