ClinVar

NM_001127255.2(NLRP7):c.2129+38G>C

Genes:

NLRP7:NLR family pyrin domain containing 7 [Gene - OMIM - HGNC]
NCR1:natural cytotoxicity triggering receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 54938006 (on Assembly GRCh38)
• Chr19: 55449374 (on Assembly GRCh37)

Preferred name:

NM_001127255.2(NLRP7):c.2129+38G>C

HGVS:

• NC_000019.10:g.54938006C>G
• NG_008056.2:g.33238G>C
• NM_001127255.2:c.2129+38G>CMANE SELECT
• NM_001405531.1:c.2129+38G>C
• NM_139176.4:c.2045+38G>C
• NM_206828.4:c.2129+38G>C
• NC_000019.9:g.55449374C>G
• NG_008056.1:g.14500G>C
• NM_001127255.1:c.2129+38G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs75675646

NCBI 1000 Genomes Browser:

rs75675646

Molecular consequence:

• NM_001127255.2:c.2129+38G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001405531.1:c.2129+38G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_139176.4:c.2045+38G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_206828.4:c.2129+38G>C - intron variant - [Sequence Ontology: SO:0001627]