ClinVar

NM_001366385.1(CARD14):c.1978+17T>C

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: 80201887 (on Assembly GRCh38)
• Chr17: 78175686 (on Assembly GRCh37)

Preferred name:

NM_001366385.1(CARD14):c.1978+17T>C

HGVS:

• NC_000017.11:g.80201887T>C
• NG_032778.1:g.36896T>C
• NM_001257970.1:c.1978+17T>C
• NM_001366385.1:c.1978+17T>CMANE SELECT
• NM_024110.4:c.1978+17T>C
• LRG_1330t1:c.1978+17T>C
• LRG_1330:g.36896T>C
• NC_000017.10:g.78175686T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1198880344

NCBI 1000 Genomes Browser:

rs1198880344

Molecular consequence:

• NM_001257970.1:c.1978+17T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001366385.1:c.1978+17T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_024110.4:c.1978+17T>C - intron variant - [Sequence Ontology: SO:0001627]