ClinVar

NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)

Gene:

PRG4:proteoglycan 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.1

Genomic location:

• Chr1: 186311170 (on Assembly GRCh38)
• Chr1: 186280302 (on Assembly GRCh37)

Preferred name:

NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)

HGVS:

• NC_000001.11:g.186311170G>T
• NG_008248.2:g.19885G>T
• NG_023284.1:g.69156C>A
• NM_001127708.3:c.3513G>T
• NM_001127709.3:c.3357G>T
• NM_001127710.3:c.3234G>T
• NM_001303232.2:c.3507G>T
• NM_005807.6:c.3636G>TMANE SELECT
• NP_001121180.2:p.Lys1171Asn
• NP_001121181.2:p.Lys1119Asn
• NP_001121182.2:p.Lys1078Asn
• NP_001290161.1:p.Lys1169Asn
• NP_005798.3:p.Lys1212Asn
• NC_000001.10:g.186280302G>T

This HGVS expression did not pass validation

Protein change:

K1078N

Links:

dbSNP: rs1657192119

NCBI 1000 Genomes Browser:

rs1657192119

Molecular consequence:

• NM_001127708.3:c.3513G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127709.3:c.3357G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127710.3:c.3234G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303232.2:c.3507G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005807.6:c.3636G>T - missense variant - [Sequence Ontology: SO:0001583]