ClinVar

NM_000086.2(CLN3):c.1210C>A (p.His404Asn)

Gene:

CLN3:ceroid-lipofuscinosis, neuronal 3 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28477623 (on Assembly GRCh38)
• Chr16: 28488944 (on Assembly GRCh37)

Preferred name:

NM_000086.2(CLN3):c.1210C>A (p.His404Asn)

HGVS:

• NC_000016.10:g.28477623G>T
• NG_008654.2:g.19680C>A
• NM_000086.2:c.1210C>A
• NM_001042432.1:c.1210C>A
• NP_000077.1:p.His404Asn
• NP_001035897.1:p.His404Asn
• NC_000016.9:g.28488944G>T
• p.H404N:CAC>AAC

This HGVS expression did not pass validation

Protein change:

H404N

Links:

dbSNP: rs146610181

GMAF:

0.0108(T), 146610181

NCBI 1000 Genomes Browser:

rs146610181

Allele Frequency:

0.0082, GO-ESP

Molecular consequence:

• NM_000086.2:c.1210C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001310136.1:c.121-10721C>A - intron variant - [Sequence Ontology: SO:0001627]