ClinVar

NM_001127255.2(NLRP7):c.2811-402C>T

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: 54928177 (on Assembly GRCh38)
• Chr19: 55439545 (on Assembly GRCh37)

Preferred name:

NM_001127255.2(NLRP7):c.2811-402C>T

HGVS:

• NC_000019.10:g.54928177G>A
• NG_008056.2:g.43067C>T
• NM_001127255.2:c.2811-402C>TMANE SELECT
• NM_001405531.1:c.2811-402C>T
• NM_139176.4:c.2727-402C>T
• NM_206828.4:c.2810+2322C>T
• NC_000019.9:g.55439545G>A
• NG_008056.1:g.24329C>T
• NM_001127255.1:c.2811-402C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs617543

NCBI 1000 Genomes Browser:

rs617543

Molecular consequence:

• NM_001127255.2:c.2811-402C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001405531.1:c.2811-402C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_139176.4:c.2727-402C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_206828.4:c.2810+2322C>T - intron variant - [Sequence Ontology: SO:0001627]