ClinVar

NM_172369.5(C1QC):c.6C>T (p.Asp2=)

Gene:

C1QC:complement C1q C chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 22644029 (on Assembly GRCh38)
• Chr1: 22970522 (on Assembly GRCh37)

Preferred name:

NM_172369.5(C1QC):c.6C>T (p.Asp2=)

HGVS:

• NC_000001.11:g.22644029C>T
• NG_007565.1:g.5405C>T
• NM_001114101.3:c.6C>T
• NM_001347619.2:c.6C>T
• NM_001347620.2:c.-87+315C>T
• NM_172369.5:c.6C>TMANE SELECT
• NP_001107573.1:p.Asp2=
• NP_001334548.1:p.Asp2=
• NP_758957.2:p.Asp2=
• LRG_24:g.5405C>T
• NC_000001.10:g.22970522C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148237661

NCBI 1000 Genomes Browser:

rs148237661

Molecular consequence:

• NM_001347620.2:c.-87+315C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114101.3:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347619.2:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172369.5:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]