ClinVar

NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)

Gene:

PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.3

Genomic location:

• Chr6: 51748124 (on Assembly GRCh38)
• Chr6: 51612922 (on Assembly GRCh37)

Preferred name:

NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)

HGVS:

• NC_000006.12:g.51748124G>A
• NG_008753.1:g.344502C>T
• NM_138694.4:c.9492C>TMANE SELECT
• NM_170724.3:c.9492C>T
• NP_619639.3:p.Ser3164=
• NP_733842.2:p.Ser3164=
• NC_000006.11:g.51612922G>A
• NM_138694.3:c.9492C>T
• NP_619639.3:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs17752991

NCBI 1000 Genomes Browser:

rs17752991

Molecular consequence:

• NM_138694.4:c.9492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170724.3:c.9492C>T - synonymous variant - [Sequence Ontology: SO:0001819]