ClinVar

NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28482105 (on Assembly GRCh38)
• Chr16: 28493426 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)

HGVS:

• NC_000016.10:g.28482105C>G
• NG_008654.2:g.15198G>C
• NM_000086.2:c.1056G>C
• NM_001042432.2:c.1056G>CMANE SELECT
• NM_001286104.2:c.984G>C
• NM_001286105.2:c.756G>C
• NM_001286109.2:c.822G>C
• NM_001286110.2:c.894G>C
• NP_000077.1:p.Gln352His
• NP_001035897.1:p.Gln352His
• NP_001035897.1:p.Gln352His
• NP_001273033.1:p.Gln328His
• NP_001273034.1:p.Gln252His
• NP_001273038.1:p.Gln274His
• NP_001273039.1:p.Gln298His
• LRG_689t1:c.1056G>C
• LRG_689t2:c.1056G>C
• LRG_689:g.15198G>C
• LRG_689p1:p.Gln352His
• LRG_689p2:p.Gln352His
• NC_000016.9:g.28493426C>G
• NM_001042432.1:c.1056G>C

This HGVS expression did not pass validation

Protein change:

Q252H

Links:

dbSNP: rs386833699

NCBI 1000 Genomes Browser:

rs386833699

Molecular consequence:

• NM_000086.2:c.1056G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.1056G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.984G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.756G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.894G>C - missense variant - [Sequence Ontology: SO:0001583]