ClinVar

NM_001042432.2(CLN3):c.684C>T (p.Phe228=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28484112 (on Assembly GRCh38)
• Chr16: 28495433 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.684C>T (p.Phe228=)

HGVS:

• NC_000016.10:g.28484112G>A
• NG_008654.2:g.13191C>T
• NM_000086.2:c.684C>T
• NM_001042432.2:c.684C>TMANE SELECT
• NM_001286104.2:c.612C>T
• NM_001286105.2:c.384C>T
• NM_001286109.2:c.450C>T
• NM_001286110.2:c.522C>T
• NP_000077.1:p.Phe228=
• NP_001035897.1:p.Phe228=
• NP_001035897.1:p.Phe228=
• NP_001273033.1:p.Phe204=
• NP_001273034.1:p.Phe128=
• NP_001273038.1:p.Phe150=
• NP_001273039.1:p.Phe174=
• LRG_689t1:c.684C>T
• LRG_689t2:c.684C>T
• LRG_689:g.13191C>T
• LRG_689p1:p.Phe228=
• LRG_689p2:p.Phe228=
• NC_000016.9:g.28495433G>A
• NM_001042432.1:c.684C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000086.2:c.684C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042432.2:c.684C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286104.2:c.612C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286105.2:c.384C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286109.2:c.450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286110.2:c.522C>T - synonymous variant - [Sequence Ontology: SO:0001819]