ClinVar

NM_001366385.1(CARD14):c.1917C>T (p.Ala639=)

Genes:

SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80201809 (on Assembly GRCh38)
• Chr17: 78175608 (on Assembly GRCh37)

Preferred name:

NM_001366385.1(CARD14):c.1917C>T (p.Ala639=)

HGVS:

• NC_000017.11:g.80201809C>T
• NG_032778.1:g.36818C>T
• NM_001257970.1:c.1917C>T
• NM_001366385.1:c.1917C>TMANE SELECT
• NM_024110.4:c.1917C>T
• NP_001244899.1:p.Ala639=
• NP_001353314.1:p.Ala639=
• NP_077015.2:p.Ala639=
• LRG_1330t1:c.1917C>T
• LRG_1330:g.36818C>T
• LRG_1330p1:p.Ala639=
• NC_000017.10:g.78175608C>T
• NR_047566.2:n.2044C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs79407194

NCBI 1000 Genomes Browser:

rs79407194

Molecular consequence:

• NR_047566.2:n.2044C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001257970.1:c.1917C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001366385.1:c.1917C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024110.4:c.1917C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2