ClinVar

NM_001366385.1(CARD14):c.470A>C (p.Gln157Pro)

Gene:

CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80184033 (on Assembly GRCh38)
• Chr17: 78157832 (on Assembly GRCh37)

Preferred name:

NM_001366385.1(CARD14):c.470A>C (p.Gln157Pro)

HGVS:

• NC_000017.11:g.80184033A>C
• NG_032778.1:g.19042A>C
• NM_001257970.1:c.470A>C
• NM_001366385.1:c.470A>CMANE SELECT
• NM_024110.4:c.470A>C
• NP_001244899.1:p.Gln157Pro
• NP_001353314.1:p.Gln157Pro
• NP_077015.2:p.Gln157Pro
• LRG_1330t1:c.470A>C
• LRG_1330:g.19042A>C
• LRG_1330p1:p.Gln157Pro
• NC_000017.10:g.78157832A>C
• NR_047566.2:n.665A>C

This HGVS expression did not pass validation

Protein change:

Q157P

Links:

dbSNP: rs1598639974

NCBI 1000 Genomes Browser:

rs1598639974

Molecular consequence:

• NM_001257970.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366385.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024110.4:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_047566.2:n.665A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]