ClinVar

NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)

Gene:

CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28482133 (on Assembly GRCh38)
• Chr16: 28493454 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)

Other names:

p.R343H:CGT>CAT

HGVS:

• NC_000016.10:g.28482133C>T
• NG_008654.2:g.15170G>A
• NM_000086.2:c.1028G>A
• NM_001042432.2:c.1028G>AMANE SELECT
• NM_001286104.2:c.956G>A
• NM_001286105.2:c.728G>A
• NM_001286109.2:c.794G>A
• NM_001286110.2:c.866G>A
• NP_000077.1:p.Arg343His
• NP_001035897.1:p.Arg343His
• NP_001035897.1:p.Arg343His
• NP_001273033.1:p.Arg319His
• NP_001273034.1:p.Arg243His
• NP_001273038.1:p.Arg265His
• NP_001273039.1:p.Arg289His
• LRG_689t1:c.1028G>A
• LRG_689t2:c.1028G>A
• LRG_689:g.15170G>A
• LRG_689p1:p.Arg343His
• LRG_689p2:p.Arg343His
• NC_000016.9:g.28493454C>T
• NM_001042432.1:c.1028G>A
• NM_001042432.2:c.1028G>A

This HGVS expression did not pass validation

Protein change:

R243H

Links:

dbSNP: rs771305783

NCBI 1000 Genomes Browser:

rs771305783

Molecular consequence:

• NM_000086.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.1028G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.866G>A - missense variant - [Sequence Ontology: SO:0001583]