ClinVar

NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)

Gene:

HPS1:HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.2

Genomic location:

• Chr10: 98418187 (on Assembly GRCh38)
• Chr10: 100177944 (on Assembly GRCh37)

Preferred name:

NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)

HGVS:

• NC_000010.11:g.98418187C>T
• NG_009646.1:g.33761G>A
• NM_000195.5:c.1928G>AMANE SELECT
• NM_001311345.2:c.956G>A
• NM_001322476.2:c.1928G>A
• NM_001322477.2:c.1928G>A
• NM_001322478.2:c.1829G>A
• NM_001322479.2:c.1829G>A
• NM_001322480.2:c.1667G>A
• NM_001322481.2:c.1667G>A
• NM_001322482.2:c.1568G>A
• NM_001322483.2:c.1559G>A
• NM_001322484.2:c.1559G>A
• NM_001322485.2:c.1460G>A
• NM_001322487.2:c.956G>A
• NM_001322489.2:c.956G>A
• NP_000186.2:p.Gly643Glu
• NP_001298274.1:p.Gly319Glu
• NP_001309405.1:p.Gly643Glu
• NP_001309406.1:p.Gly643Glu
• NP_001309407.1:p.Gly610Glu
• NP_001309408.1:p.Gly610Glu
• NP_001309409.1:p.Gly556Glu
• NP_001309410.1:p.Gly556Glu
• NP_001309411.1:p.Gly523Glu
• NP_001309412.1:p.Gly520Glu
• NP_001309413.1:p.Gly520Glu
• NP_001309414.1:p.Gly487Glu
• NP_001309416.1:p.Gly319Glu
• NP_001309418.1:p.Gly319Glu
• LRG_562t1:c.1928G>A
• LRG_562:g.33761G>A
• LRG_562p1:p.Gly643Glu
• NC_000010.10:g.100177944C>T
• NM_000195.3:c.1928G>A
• NM_000195.4:c.1928G>A

This HGVS expression did not pass validation

Protein change:

G319E

Links:

dbSNP: rs148225281

NCBI 1000 Genomes Browser:

rs148225281

Molecular consequence:

• NM_000195.5:c.1928G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001311345.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322476.2:c.1928G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322477.2:c.1928G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322478.2:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322479.2:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322480.2:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322481.2:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322482.2:c.1568G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322483.2:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322484.2:c.1559G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322485.2:c.1460G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322487.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322489.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]