ClinVar

NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28484048 (on Assembly GRCh38)
• Chr16: 28495369 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)

HGVS:

• NC_000016.10:g.28484048G>A
• NG_008654.2:g.13255C>T
• NM_000086.2:c.748C>T
• NM_001042432.2:c.748C>TMANE SELECT
• NM_001286104.2:c.676C>T
• NM_001286105.2:c.448C>T
• NM_001286109.2:c.514C>T
• NM_001286110.2:c.586C>T
• NP_000077.1:p.Arg250Trp
• NP_001035897.1:p.Arg250Trp
• NP_001035897.1:p.Arg250Trp
• NP_001273033.1:p.Arg226Trp
• NP_001273034.1:p.Arg150Trp
• NP_001273038.1:p.Arg172Trp
• NP_001273039.1:p.Arg196Trp
• LRG_689t1:c.748C>T
• LRG_689t2:c.748C>T
• LRG_689:g.13255C>T
• LRG_689p1:p.Arg250Trp
• LRG_689p2:p.Arg250Trp
• NC_000016.9:g.28495369G>A
• NM_001042432.1:c.748C>T
• NM_001042432.2:c.748C>T

This HGVS expression did not pass validation

Protein change:

R150W

Links:

dbSNP: rs764881080

NCBI 1000 Genomes Browser:

rs764881080

Molecular consequence:

• NM_000086.2:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.676C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.448C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.514C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.586C>T - missense variant - [Sequence Ontology: SO:0001583]