ClinVar

NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)

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: 98423847 (on Assembly GRCh38)
• Chr10: 100183604 (on Assembly GRCh37)

Preferred name:

NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)

HGVS:

• NC_000010.11:g.98423847C>T
• NG_009646.1:g.28101G>A
• NM_000195.5:c.1438G>AMANE SELECT
• NM_001311345.2:c.466G>A
• NM_001322476.2:c.1438G>A
• NM_001322477.2:c.1438G>A
• NM_001322478.2:c.1339G>A
• NM_001322479.2:c.1339G>A
• NM_001322480.2:c.1177G>A
• NM_001322481.2:c.1177G>A
• NM_001322482.2:c.1078G>A
• NM_001322483.2:c.1069G>A
• NM_001322484.2:c.1069G>A
• NM_001322485.2:c.970G>A
• NM_001322487.2:c.466G>A
• NM_001322489.2:c.466G>A
• NP_000186.2:p.Ala480Thr
• NP_001298274.1:p.Ala156Thr
• NP_001309405.1:p.Ala480Thr
• NP_001309406.1:p.Ala480Thr
• NP_001309407.1:p.Ala447Thr
• NP_001309408.1:p.Ala447Thr
• NP_001309409.1:p.Ala393Thr
• NP_001309410.1:p.Ala393Thr
• NP_001309411.1:p.Ala360Thr
• NP_001309412.1:p.Ala357Thr
• NP_001309413.1:p.Ala357Thr
• NP_001309414.1:p.Ala324Thr
• NP_001309416.1:p.Ala156Thr
• NP_001309418.1:p.Ala156Thr
• LRG_562t1:c.1438G>A
• LRG_562:g.28101G>A
• LRG_562p1:p.Ala480Thr
• NC_000010.10:g.100183604C>T
• NM_000195.4:c.1438G>A

This HGVS expression did not pass validation

Protein change:

A156T

Links:

dbSNP: rs17109853

NCBI 1000 Genomes Browser:

rs17109853

Molecular consequence:

• NM_000195.5:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001311345.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322476.2:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322477.2:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322478.2:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322479.2:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322480.2:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322481.2:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322482.2:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322483.2:c.1069G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322484.2:c.1069G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322485.2:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322487.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322489.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]