ClinVar

NM_001042432.2(CLN3):c.722G>A (p.Gly241Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28484074 (on Assembly GRCh38)
• Chr16: 28495395 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.722G>A (p.Gly241Glu)

HGVS:

• NC_000016.10:g.28484074C>T
• NG_008654.2:g.13229G>A
• NM_000086.2:c.722G>A
• NM_001042432.2:c.722G>AMANE SELECT
• NM_001286104.2:c.650G>A
• NM_001286105.2:c.422G>A
• NM_001286109.2:c.488G>A
• NM_001286110.2:c.560G>A
• NP_000077.1:p.Gly241Glu
• NP_001035897.1:p.Gly241Glu
• NP_001035897.1:p.Gly241Glu
• NP_001273033.1:p.Gly217Glu
• NP_001273034.1:p.Gly141Glu
• NP_001273038.1:p.Gly163Glu
• NP_001273039.1:p.Gly187Glu
• LRG_689t1:c.722G>A
• LRG_689t2:c.722G>A
• LRG_689:g.13229G>A
• LRG_689p1:p.Gly241Glu
• LRG_689p2:p.Gly241Glu
• NC_000016.9:g.28495395C>T
• NM_001042432.1:c.722G>A

This HGVS expression did not pass validation

Protein change:

G141E

Molecular consequence:

• NM_000086.2:c.722G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.722G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.650G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]