ClinVar

NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28489306 (on Assembly GRCh38)
• Chr16: 28500627 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)

Other names:

p.S69L:TCG>TTG

HGVS:

• NC_000016.10:g.28489306G>A
• NG_008654.2:g.7997C>T
• NM_000086.2:c.206C>T
• NM_001042432.2:c.206C>TMANE SELECT
• NM_001286104.2:c.206C>T
• NM_001286105.2:c.-15C>T
• NM_001286109.2:c.44C>T
• NM_001286110.2:c.44C>T
• NP_000077.1:p.Ser69Leu
• NP_001035897.1:p.Ser69Leu
• NP_001035897.1:p.Ser69Leu
• NP_001273033.1:p.Ser69Leu
• NP_001273038.1:p.Ser15Leu
• NP_001273039.1:p.Ser15Leu
• LRG_689t1:c.206C>T
• LRG_689t2:c.206C>T
• LRG_689:g.7997C>T
• LRG_689p1:p.Ser69Leu
• LRG_689p2:p.Ser69Leu
• NC_000016.9:g.28500627G>A
• NM_001042432.1:c.206C>T
• NM_001042432.2:c.206C>T
• p.Ser69Leu

This HGVS expression did not pass validation

Protein change:

S15L

Links:

dbSNP: rs769840061

NCBI 1000 Genomes Browser:

rs769840061

Molecular consequence:

• NM_001286105.2:c.-15C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000086.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]