ClinVar

NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28489337 (on Assembly GRCh38)
• Chr16: 28500658 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)

HGVS:

• NC_000016.10:g.28489337C>T
• NG_008654.2:g.7966G>A
• NM_000086.2:c.175G>A
• NM_001042432.2:c.175G>AMANE SELECT
• NM_001286104.2:c.175G>A
• NM_001286105.2:c.-46G>A
• NM_001286109.2:c.13G>A
• NM_001286110.2:c.13G>A
• NP_000077.1:p.Ala59Thr
• NP_001035897.1:p.Ala59Thr
• NP_001273033.1:p.Ala59Thr
• NP_001273038.1:p.Ala5Thr
• NP_001273039.1:p.Ala5Thr
• LRG_689t1:c.175G>A
• LRG_689t2:c.175G>A
• LRG_689:g.7966G>A
• LRG_689p1:p.Ala59Thr
• NC_000016.9:g.28500658C>T
• NM_001042432.1:c.175G>A
• NM_001042432.2:c.175G>A

This HGVS expression did not pass validation

Protein change:

A59T

Links:

dbSNP: rs765893479

NCBI 1000 Genomes Browser:

rs765893479

Molecular consequence:

• NM_001286105.2:c.-46G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000086.2:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]