ClinVar

NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28484027 (on Assembly GRCh38)
• Chr16: 28495348 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)

Other names:

p.E257K:GAG>AAG

HGVS:

• NC_000016.10:g.28484027C>T
• NG_008654.2:g.13276G>A
• NM_000086.2:c.769G>A
• NM_001042432.2:c.769G>AMANE SELECT
• NM_001286104.2:c.697G>A
• NM_001286105.2:c.469G>A
• NM_001286109.2:c.535G>A
• NM_001286110.2:c.607G>A
• NP_000077.1:p.Glu257Lys
• NP_001035897.1:p.Glu257Lys
• NP_001035897.1:p.Glu257Lys
• NP_001273033.1:p.Glu233Lys
• NP_001273034.1:p.Glu157Lys
• NP_001273038.1:p.Glu179Lys
• NP_001273039.1:p.Glu203Lys
• LRG_689t1:c.769G>A
• LRG_689t2:c.769G>A
• LRG_689:g.13276G>A
• LRG_689p1:p.Glu257Lys
• LRG_689p2:p.Glu257Lys
• NC_000016.9:g.28495348C>T
• NM_001042432.1:c.769G>A
• NM_001042432.2:c.769G>A

This HGVS expression did not pass validation

Protein change:

E157K

Links:

dbSNP: rs771303379

NCBI 1000 Genomes Browser:

rs771303379

Molecular consequence:

• NM_000086.2:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]