ClinVar

NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28482139 (on Assembly GRCh38)
• Chr16: 28493460 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.1022G>A (p.Arg341His)

Other names:

p.R341H:CGC>CAC

HGVS:

• NC_000016.10:g.28482139C>T
• NG_008654.2:g.15164G>A
• NM_000086.2:c.1022G>A
• NM_001042432.2:c.1022G>AMANE SELECT
• NM_001286104.2:c.950G>A
• NM_001286105.2:c.722G>A
• NM_001286109.2:c.788G>A
• NM_001286110.2:c.860G>A
• NP_000077.1:p.Arg341His
• NP_001035897.1:p.Arg341His
• NP_001035897.1:p.Arg341His
• NP_001273033.1:p.Arg317His
• NP_001273034.1:p.Arg241His
• NP_001273038.1:p.Arg263His
• NP_001273039.1:p.Arg287His
• LRG_689t1:c.1022G>A
• LRG_689t2:c.1022G>A
• LRG_689:g.15164G>A
• LRG_689p1:p.Arg341His
• LRG_689p2:p.Arg341His
• NC_000016.9:g.28493460C>T
• NM_001042432.1:c.1022G>A

This HGVS expression did not pass validation

Protein change:

R241H

Links:

dbSNP: rs201271341

NCBI 1000 Genomes Browser:

rs201271341

Molecular consequence:

• NM_000086.2:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.722G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.860G>A - missense variant - [Sequence Ontology: SO:0001583]