ClinVar

NM_172369.5(C1QC):c.126C>T (p.Pro42=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 22644149 (on Assembly GRCh38)
• Chr1: 22970642 (on Assembly GRCh37)

Preferred name:

NM_172369.5(C1QC):c.126C>T (p.Pro42=)

HGVS:

• NC_000001.11:g.22644149C>T
• NG_007565.1:g.5525C>T
• NM_001114101.3:c.126C>T
• NM_001347619.2:c.126C>T
• NM_001347620.2:c.-87+435C>T
• NM_172369.5:c.126C>TMANE SELECT
• NP_001107573.1:p.Pro42=
• NP_001334548.1:p.Pro42=
• NP_758957.2:p.Pro42=
• LRG_24:g.5525C>T
• NC_000001.10:g.22970642C>T
• NM_172369.3:c.126C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs15940

NCBI 1000 Genomes Browser:

rs15940

Molecular consequence:

• NM_001347620.2:c.-87+435C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114101.3:c.126C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347619.2:c.126C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172369.5:c.126C>T - synonymous variant - [Sequence Ontology: SO:0001819]