ClinVar

NM_001042432.2(CLN3):c.1048del (p.Leu350fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28482113 (on Assembly GRCh38)
• Chr16: 28493434 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.1048del (p.Leu350fs)

HGVS:

• NC_000016.10:g.28482115del
• NG_008654.2:g.15190del
• NM_000086.2:c.1048del
• NM_001042432.2:c.1048delMANE SELECT
• NM_001286104.2:c.976del
• NM_001286105.2:c.748del
• NM_001286109.2:c.814del
• NM_001286110.2:c.886del
• NP_000077.1:p.Leu350fs
• NP_001035897.1:p.Leu350fs
• NP_001273033.1:p.Leu326fs
• NP_001273034.1:p.Leu250fs
• NP_001273038.1:p.Leu272fs
• NP_001273039.1:p.Leu296fs
• LRG_689t1:c.1048del
• LRG_689:g.15190del
• LRG_689p1:p.Leu350fs
• NC_000016.9:g.28493434del
• NC_000016.9:g.28493436del
• NM_001042432.1:c.1048delC

This HGVS expression did not pass validation

Protein change:

L250fs

Links:

dbSNP: rs386833696

NCBI 1000 Genomes Browser:

rs386833696

Molecular consequence:

• NM_000086.2:c.1048del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001042432.2:c.1048del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001286104.2:c.976del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001286105.2:c.748del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001286109.2:c.814del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001286110.2:c.886del - frameshift variant - [Sequence Ontology: SO:0001589]